Gene References


TACR2 (tachykinin receptor 2)

Ahlstedt I, Engberg S, Smith J et al. Occurrence and pharmacological characterization of four human tachykinin NK2 receptor variants. Biochem Pharmacol 2008; 76:476-81.

Mishra BK, Wu T, Belfer I et al. Do motor control genes contribute to interindividual variability in decreased movement in patients with pain? Mol Pain 2007; 3:20.

Perlis RH, Purcell S, Fagerness J et al. Family-based association study of lithium-related and other candidate genes in bipolar disorder. Arch Gen Psychiatry 2008; 65:53-61.

Ye YM, Kang YM, Kim SH et al. Relationship between neurokinin 2 receptor gene polymorphisms and serum vascular endothelial growth factor levels in patients with toluene diisocyanate-induced asthma. Clin Exp Allergy 2006; 36:1153-60.

TAP1 (transporter 1, ATP-binding cassette, sub-family B (MDR/TAP))

Aquino-Galvez A, Camarena A, Montaño M et al. Transporter associated with antigen processing (TAP) 1 gene polymorphisms in patients with hypersensitivity pneumonitis. Exp Mol Pathol 2008; 84:173-7.

Einstein MH, Leanza S, Chiu LG et al. Genetic variants in TAP are associated with high-grade cervical neoplasia. Clin Cancer Res 2009; 15:1019-23.

Kasajima A, Sers C, Sasano H et al. Down-regulation of the antigen processing machinery is linked to a loss of inflammatory response in colorectal cancer. Hum Pathol 2010; 41):1758-69.

Kim KR, Cho SH, Choi SJ et al. TAP1 and TAP2 gene polymorphisms in Korean patients with allergic rhinitis. J Korean Med Sci 2007; 22:825-31.

Satoh J. Interferon -beta therapy in multiple sclerosis. Nippon Rinsho 2006; 64:1297-309.

Soundravally R, Hoti SL. Polymorphisms of the TAP 1 and 2 gene may influence clinical outcome of primary dengue viral infection. Scand J Immunol 2008; 67:618-25.

Theodoratos A, Whittle B, Enders A et al. Mouse strains with point mutations in TAP1 and TAP2. Immunol Cell Biol 2010; 88:72-8.

TBX21 (T-box 21)

Chae SC, Shim SC, Chung HT. Association of TBX21 polymorphisms in a Korean population with rheumatoid arthritis. Exp Mol Med 2009; 41:33-41.

Gourh P, Agarwal SK, Divecha D et al. Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines. Arthritis Rheum 2009; 60:3794-806.

Lima JJ, Blake KV, Tantisira KG, Weiss ST. Pharmacogenetics of asthma. Curr Opin Pulm Med 2009; 15:57-62.

Shi Y, Wang H, Su Z et al. Differentiation imbalance of Th1/Th17 in peripheral blood mononuclear cells might contribute to pathogenesis of Hashimoto’s thyroiditis. Scand J Immunol 2010; 72:250-5.

Suttner K, Rosenstiel P, Depner M et al. TBX21 gene variants increase childhood asthma risk in combination with HLX1 variants. J Allergy Clin Immunol 2009; 123:1062-8.

Wong ML, Dong C, Maestre-Mesa J, Licinio J. Polymorphisms in inflammation-related genes are associated with susceptibility to major depression and antidepressant response. Mol Psychiatry 2008; 13:800-12.

You Y, Zhao W, Chen S et al. Association of TBX21 gene haplotypes in a Chinese population with systemic lupus erythematosus. Scand J Rheumatol 2010; 39:254-8.

TBXA2R (thromboxane A2 receptor)

Cheng Y, Austin SC, Rocca B et al. Role of prostacyclin in the cardiovascular response to thromboxane A2. Science 2002; 296:539-41.

Duncan AMV, Anderson LL, Funk CD, Abramovitz M, Adam M. Chromosomal localization of the human prostanoid receptor gene family. Genomics 1995; 25:740-2.

Fuse I, Mito M, Hattori A et al. Defective signal transduction induced by thromboxane A2 in a patient with a mild bleeding disorder: impaired phospholipase C activation despite normal phospholipase A2 activation. Blood 1993; 81:994-1000.

Fontana P, Gandrille S, Remones V et al. Identification of functional polymorphisms of the thromboxane A2 receptor gene in healthy volunteers. Thromb Haemost 2006; 3:356-60.

Hirata T, Kakizuka A, Ushikubi F, Fuse I, Okuma M, Narumiya S. Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. J Clin Invest 1994; 94:1662-7.

Kabashima K, Murata T, Tanaka H et al. Thromboxane A2 modulates interaction of dendritic cells and T cells and regulates acquired immunity. Nat Immun 2003; 4:694-701.

Kaneko Y, Nakayama T, Saito K et al. Relationship between the thromboxane A2 receptor gene and susceptibility to cerebral infarction. Hypertens Res 2006; 9:665-71.

Kim SH, Choi JH, Park HS et al. Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid-intolerant asthma. Clin Exp Allergy 2005; 35:585-90.

Ushikubi F, Okuma M, Kanaji K et al. Hemorrhagic thrombocytopathy with platelet thromboxane A2 receptor abnormality: defective signal transduction with normal binding activity. Thromb Haemost 1987; 57:158-64.

TBXAS1 (thromboxane A synthase 1(platelet))

Geneviève D, Proulle V, Isidor B et al. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet 2008; 40:284-6.

Isidor B, Dagoneau N, Huber C et al. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. Hum Genet 2007; 121:269-73.

Kimouli M, Gourvas V, Konstantoudaki X, Basta M, Miyakis S, Spandidos DA. The effect of an exon 12 polymorphism of the human thromboxane synthase (CYP5A1) gene in stroke patients. Med Sci Monit 2009; 15:30-5.

Lemaitre RN, Rice K, Marciante K et al. Variation in eicosanoid genes, non-fatal myocardial infarction and ischemic stroke. Atherosclerosis 2009; 204:58-63.

Vink JM, Smit AB, de Geus EJ et al. Genome-wide association study of smoking initiation and current smoking. Am J Hum Genet 2009; 84:367-79.

TERT (telomerase reverse transcriptase)

Armanios M, Chen JL, Chang YP et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005; 102:15960-4.

Brandt S. TERT over-expression affects the growth of myocardial tissue derived from mouse embryonic stem cells. Differentiation 2010; 79:1-8.

Hsiung CA, Lan Q, Hong YC et al. The 5p15. 33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia. PLoS Genet 2010. doi:10. 1371/journal. pgen. 1001051.

Jin G, Yoo SS, Cho S et al. Dual roles of a variable number of tandem repeat polymorphism in the TERT gene in lung cancer. Cancer Sci 2011; 102:144-9.

Johnatty SE, Beesley J, Chen X et al. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility “hot-spot”. PLoS Genet 2010. doi:10. 1371/journal. pgen. 1001016.

Landi MT, Chatterjee N, Yu K et al. A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet 2009; 85:679-91.

Lee J, Jo YS, Sung YH et al. Telomerase deficiency affects normal brain functions in mice. Neurochem Res 2010; 35:211-8.

Liu Z, Li G, Wei S et al. Genetic variations in TERT-CLPTM1L genes and risk of squamous cell carcinoma of the head and neck. Carcinogenesis 2010; 31:1977-81.

Matsubara Y, Murata M, Watanabe K et al. Coronary artery disease and a functional polymorphism of hTERT. Biochem Biophys Res Commun 2006; 348:669-72.

Meznikova M, Erdmann N, Allsopp R, Harrington LA. Telomerase reverse transcriptase-dependent telomere equilibration mitigates tissue dysfunction in mTert heterozygotes. Dis Model Mech 2009; 2:620-6.

Mushiroda T, Wattanapokayakit S, Takahashi A et al. A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. J Med Genet 2008; 45:654-6.

Shen J, Gammon MD, Wu HC et al. Multiple genetic variants in telomere pathway genes and breast cancer risk. Cancer Epidemiol Biomarkers Prev 2010; 19:219-28.

Shete S, Hosking FJ, Robertson LB et al. Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet 2009; 41:899-904.

Yamaguchi H, Calado RT, Ly H et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. New Eng J Med 2005; 352:1413-24.

Yoon SL, Jung SI, Do EJ et al. Short rare hTERT-VNTR2-2nd alleles are associated with prostate cancer susceptibility and influence gene expression. BMC Cancer 2010; 10:393.

Zhang A, Zheng C, Hou M et al. Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. Am J Hum Genet 2003; 72:940-8.

TGFB1 (transforming growth factor, beta 1)

Adamopoulos S, Kolokathis F, Gkouziouta A et al. Cytokine gene polymorphisms are associated with markers of disease severity and prognosis in patients with idiopathic dilated cardiomyopathy. Cytokine 2011; 54:68-73.

Arthur AT, Armati PJ, Bye C et al. Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission. BMC Med Genet 2008; 19:9:17.

Bantis C, Heering P, Aker S, Kuhr N, Grabensee B, Ivens K. Influence of cytokine gene polymorphisms on IgA nephropathy. Ren Fail 2008; 2:135-140.

Brionne TC, Tesseur I, Masliah E, Wyss-Coray T. Loss of TGF-beta-1 leads to increased neuronal cell death and microgliosis in mouse brain. Neuron 2003; 40:1133-45.

Broide DH. Immunologic and inflammatory mechanisms that drive asthma progression to remodeling. J Allergy Clin Immunol 2008; 3:560-70.

Chang SJ, Chen CJ, Tsai FC et al. Associations between gout tophus and polymorphisms 869T/C and -509C/T in transforming growth factor beta1 gene. Rheumatology 2008; 5:617-21.

Chen XH, Li XQ, Chen Y, Feng YM. Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China. Breast Cancer Res Treat 2011; 125:575-82.

Clouthier DE, Comerford SA, Hammer RE. Hepatic fibrosis, glomerulosclerosis, and lipodystrophy-like PEPCK-TGF-beta-1 transgenic mice. J Clin Invest 1997; 100:2697-2713.

Cohn RD, van Erp C, Habashi JP et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007; 13:204-10.

Coulouarn C, Factor VM, Thorgeirsson SS. Transforming growth factor-beta gene expression signature in mouse hepatocytes predicts clinical outcome in human cancer. Hepatology 2008; 6:2059-67.

Cox A, Dunning AM, Garcia-Closas M et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007; 39:352-8.

Crivello A, Giacalone A, Vaglica M et al. Regulatory cytokine gene polymorphisms and risk of colorectal carcinoma. Ann N Y Acad Sci 2006; 1089:98-103.

Crobu F, Palumbo L, Franco E et al. Role of TGF-beta1 haplotypes in the occurrence of myocardial infarction in young Italian patients. BMC Med Genet 2008; 9:13.

Deng HB, Jiang CQ, Tomlinson B et al. A polymorphism in transforming growth factor-β1 is associated with carotid plaques and increased carotid intima-media thickness in older Chinese men: The Guangzhou Biobank Cohort Study-Cardiovascular Disease Subcohort. Atherosclerosis 2011; 214:391-6.

Dorfman R, Sandford A, Taylor C et al. Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J Clin Invest 2008; 118:1040-9.

Drumm ML, Konstan MW, Schluchter MD et al. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005; 353:1443-53.

Fransvea E, Angelotti U, Antonaci S, Giannelli G. Blocking transforming growth factor-beta up-regulates E-cadherin and reduces migration and invasion of hepatocellular carcinoma cells. Hepatology 2008; 5:1557-66.

Guo W, Dong Z, Guo Y et al. Polymorphisms of transforming growth factor-β1 associated with increased risk of gastric cardia adenocarcinoma in north China. Int J Immunogenet 2011; 38:215-24.

Hamaguchi T, Okino S, Sodeyama N et al. Association of a polymorphism of the transforming growth factor-beta1 gene with cerebral amyloid angiopathy. J Neurol Neurosurg Psychiatry 2005; 76:696-9.

Hung TT, Wang H, Kingsley EA, Risbridger GP, Russell PJ. Molecular profiling of bladder cancer: Involvement of the TGF-beta pathway in bladder cancer progression. Cancer Lett 2008; 1:27-38.

Kim L, Kim do K, Yang WI et al. Overexpression of transforming growth factor-beta 1 in the valvular fibrosis of chronic rheumatic heart disease. J Korean Med Sci 2008; 1:41-8.

Lee YG, Kim I, Kim JH et al. Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia. Ann Hematol 2011; 90:515-21.

Lin W, Weinberg EM, Tai AW et al. HIV increases HCV replication in a TGF-beta1-dependent manner. Gastroenterology 2008; 3:803-11.

Mourskaia AA, Dong Z, Ng S et al. Transforming growth factor-beta1 is the predominant isoform required for breast cancer cell outgrowth in bone. Oncogene 2009; 28:1005-15.

Park HK, Park HW, Jeon SG et al. Distinct association of genetic variations of vascular endothelial growth factor, transforming growth factor-beta, and fibroblast growth factor receptors with atopy and airway hyperresponsiveness. Allergy 2008; 4:447-53.

Perez AB, Sierra B, Garcia G et al. Tumor necrosis factor-alpha, transforming growth factor-β1, and interleukin-10 gene polymorphisms: implication in protection or susceptibility to dengue hemorrhagic fever. Hum Immunol 2010; 71:1135-40.

Perruche S, Zhang P, Maruyama T, Bluestone JA, Saas P, Chen W. Lethal effect of CD3-specific antibody in mice deficient in TGF-beta1 by uncontrolled flu-like syndrome. J Immunol 2009; 183:953-61.

Saltzman BS, Yamamoto JF, Decker R et al. Association of genetic variation in the transforming growth factor beta-1 gene with serum levels and risk of colorectal neoplasia. Cancer Res 2008; 4:1236-44.

Schrijver HM, Crusius JB, García-González MA et al. Gender-related association between the TGFB1+869 polymorphism and multiple sclerosis. J Interferon Cytokine Res 2004; 24:536-42.

Tao HM, Chen GZ, Lu XD, Chen GP, Shao B. TGF-β1 869T/C polymorphism and ischemic stroke: sex difference in Chinese. Can J Neurol Sci 2010; 37:803-7.

Town T, Laouar Y, Pittenger C et al. Blocking TGF-beta-Smad2/3 innate immune signaling mitigates Alzheimer-like pathology. Nat Med 2008; 6:681-7.

Zaharieva I, Georgieva L, Nikolov I et al. Association study in the 5q31-32 linkage region for schizophrenia using pooled DNA genotyping. BMC Psychiatry 2008; 8:11.

TGFBR1 (transforming growth factor, beta receptor 1)

Adrian K, Strouch MJ, Zeng Q et al. Tgfbr1 haploinsufficiency inhibits the development of murine mutant Kras-induced pancreatic precancer. Cancer Res 2009; 69:9169-74.

Hu YS, Pan Y, Li WH, Zhang Y, Li J, Ma BA. Association between TGFBR1*6A and osteosarcoma: a Chinese case-control study. BMC Cancer 2010; 10:169.

Kaklamani VG, Hou N, Bian Y et al. TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies. J Clin Oncol 2003; 21:3236-43.

Liao RY, Mao C, Qiu LX, Ding H, Chen Q, Pan HF. TGFBR1*6A/9A polymorphism and cancer risk: a meta-analysis of 13,662 cases and 14,147 controls. Mol Biol Rep 2010; 37:3227-32.

Loeys BL, Schwarze U, Holm T et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006; 355:788-98.

Pasche B, Wisinski KB, Sadim M et al. Constitutively decreased TGFBR1 allelic expression is a common finding in colorectal cancer and is associated with three TGFBR1 SNPs. J Exp Clin Cancer Res 2010; 29:57.

Rosman DS, Kaklamani V, Pasche B. New insights into breast cancer genetics and impact on patient management. Curr Treat Options Oncol 2007; 8:61-73.

Zeng Q, Phukan S, Xu Y et al. Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development. Cancer Res 2009; 69:678-86.

THBD (thrombomodulin)

Corso A, Lorenzi A, Terulla V et al. Modification of thrombomodulin plasma levels in refractory myeloma patients during treatment with thalidomide and dexamethasone. Ann Hematol 2004; 83:588-91.

Delvaeye M, Noris M, de Vriese A et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med 2009; 361:345-57.

Doggen CJ, Kunz G, Rosendaal FR et al. A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men. Thromb Haemost 1998; 80:743-8.

Magdelaine A, Verdy E, Coulet F et al. Deep vein thrombosis during enoxaparin prophylactic treatment in a young pregnant woman homozygous for factor V Leiden and heterozygous for the G127→a mutation in the thrombomodulin gene. Blood Coagul Fibrinolysis 2000; 11:761-5.

Noris M, Caprioli J, Bresin E et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol 2010; 5:1844-59.

Ohlin AK, Marlar RA. The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease. Blood 1995; 85:330-6.

Sood R, Sholl L, Isermann B, Zogg M, Coughlin SR, Weiler H. Maternal Par4 and platelets contribute to defective placenta formation in mouse embryos lacking thrombomodulin. Blood 2008; 112:585-91.

Weijer S, Wieland CW, Florquin S, van der Poll T. A thrombomodulin mutation that impairs activated protein C generation results in uncontrolled lung inflammation during murine tuberculosis. Blood 2005; 106:2761-8.

Woodley-Cook J, Shin LY, Swystun L, Caruso S, Beaudin S, Liaw PC. Effects of the chemotherapeutic agent doxorubicin on the protein C anticoagulant pathway. Mol Cancer Ther 2006; 5:3303-11.

TIMP3 (TIMP metallopeptidase inhibitor 3)

Anania MC, Sensi M, Radaelli E et al. TIMP3 regulates migration, invasion and in vivo tumorigenicity of thyroid tumor cells. Oncogene 2011; 30:3011-23.

Fogarasi M, Janssen A, Weber BH, Stöhr H. Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy. Matrix Biol 2008; 27:381-92.

Jacobson SG, Cideciyan AV, Bennett J, Kingsley RM, Sheffield VC, Stone EM. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch Ophthalmol 2002; 120:376-9.

Kallio JP, Hopkins-Donaldson S, Baker AH, Kähäri VM. TIMP-3 promotes apoptosis in nonadherent small cell lung carcinoma cells lacking functional death receptor pathway. Int J Cancer 2011; 128:991-6.

Kassiri Z, Defamie V, Hariri M et al. Simultaneous transforming growth factor beta-tumor necrosis factor activation and cross-talk cause aberrant remodeling response and myocardial fibrosis in Timp3-deficient heart. J Biol Chem 2009; 284:29893-904.

Patel N, Adewoyin T, Chong NV. Age-related macular degeneration: a perspective on genetic studies. Eye 2008; 22:768-76.

Saihan Z, Li Z, Rice J et al. Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy. Mol Vis 2009; 15:1218-30.

TLR4 (toll-like receptor 4)

Ajdary S, Ghamilouie MM, Alimohammadian MH, Riazi-Rad F, Pakzad SR. Toll-like receptor 4 polymorphisms predispose to cutaneous leishmaniasis. Microbes Infect 2011; 13:226-31.

Apetoh L, Ghiringhelli F, Tesniere A et al. Toll-like receptor 4-dependent contribution of the immune system to anticancer chemotherapy and radiotherapy. Nat Med 2007; 13:1050-9.

Bochud PY, Chien JW, Marr KA et al. Toll-like receptor 4 polymorphisms and aspergillosis in stem-cell transplantation. N Engl J Med 2008; 359:1766-77.

Boraska Jelavić T, Barisić M, Drmic Hofman I et al. Microsatelite GT polymorphism in the toll-like receptor 2 is associated with colorectal cancer. Clin Genet 2006; 70:156-60.

Cuda C, Badawi A, Karmali M, El-Sohemy A. Polymorphisms in Toll-like receptor 4 are associated with factors of the metabolic syndrome and modify the association between dietary saturated fat and fasting high-density lipoprotein cholesterol. Metabolism 2011; 60:1131-5.

den Hartog JE, Lyons JM, Ouburg S et al. TLR4 in Chlamydia trachomatis infections: knockout mice, STD patients and women with tubal factor subfertility. Drugs Today 2009; 45 Suppl B:75-82.

Dhiman N, Ovsyannikova IG, Vierkant RA et al. Associations between SNPs in toll-like receptors and related intracellular signaling molecules and immune responses to measles vaccine: preliminary results. Vaccine 2008; 26:1731-6.

Gazouli M, Mantzaris G, Kotsinas A et al. Association between polymorphisms in the Toll-like receptor 4, CD14, and CARD15/NOD2 and inflammatory bowel disease in the Greek population. World J Gastroenterol 2005; 11:681-5.

González-Navajas JM, Fine S, Law J et al. TLR4 signaling in effector CD4+ T cells regulates TCR activation and experimental colitis in mice. J Clin Invest 2010; 120:570-81.

Hodgkinson CP, Ye S. Statins inhibit toll-like receptor 4-mediated lipopolysaccharide signaling and cytokine expression. Pharmacogenet Genomics 2008; 18:803-13.

Holloway JW, Yang IA, Ye S. Variation in the toll-like receptor 4 gene and susceptibility to myocardial infarction. Pharmacogenet Genomics 2005; 15:15-21.

Kolek MJ, Carlquist JF, Muhlestein JB et al. Toll-like receptor 4 gene Asp299Gly polymorphism is associated with reductions in vascular inflammation, angiographic coronary artery disease, and clinical diabetes. Am Heart J 2004; 148:1034-40.

Kooloos WM, Wessels JA, van der Straaten T, Allaart CF, Huizinga TW, Guchelaar HJ. Functional polymorphisms and methotrexate treatment outcome in recent-onset rheumatoid arthritis. Pharmacogenomics 2010; 11:163-75.

Liadaki K, Petinaki E, Skoulakis C et al. Toll-like receptor 4 gene (TLR4), but not TLR2, polymorphisms modify the risk of Tonsillar disease due to Streptococcus pyogenes and Haemophilus influenzae. Clin Vaccine Immunol 2011; 18:217-22.

Papadopoulos AI, Ferwerda B, Antoniadou A et al. Association of toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms with increased infection risk in patients with advanced HIV-1 infection. Clin Infect Dis 2010; 51:242-7.

Patrignani P, Di Febbo C, Tacconelli S et al. Reduced thromboxane biosynthesis in carriers of toll-like receptor 4 polymorphisms in vivo. Blood 2006; 107:3572-4.

Saçkesen C, Karaaslan C, Keskin O et al. The effect of polymorphisms at the CD14 promoter and the TLR4 gene on asthma phenotypes in Turkish children with asthma. Allergy 2005; 60:1485-92.

Smirnova I, Hamblin MT, McBride C, Beutler B, Di Rienzo A. Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans. Genetics 2001; 158:1657-64.

Verma A, Prasad KN, Gupta RK et al. Toll-like receptor 4 polymorphism and its association with symptomatic neurocysticercosis. J Infect Dis 2010; 202:1219-25.

Xie F, Hu Y, Speert DP et al. Toll-like receptor gene polymorphisms and preeclampsia risk: a case-control study and data synthesis. Hypertens Pregnancy 2010; 29:390-8.

Yin X, Hou T, Liu Y et al. Association of Toll-like receptor 4 gene polymorphism and expression with urinary tract infection types in adults. PLoS One 2010. doi:10. 1371/journal. pone. 0014223.

Zareparsi S, Buraczynska M, Branham KE et al. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet 2005; 14:1449-55.

TNF (tumor necrosis factor (TNF superfamily, member 2))

Ahirwar DK, Kesarwani P, Singh R, Ghoshal UC, Mittal RD. Role of tumor necrosis factor-alpha (C-863A) polymorphism in pathogenesis of inflammatory bowel disease in Northern India. J Gastrointest Cancer 2011. doi:10. 1007/s12029-010-9238-9.

Allcock RJN, Windsor L, Gut IG et al. High-density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: implications for haplotype tagging. Hum Mutat 2004; 24:517-25.

Aoki T, Hirota T, Tamari M et al. An association between asthma and TNF-308G/A polymorphism: meta-analysis. J Hum Genet 2006; 51:677-85.

Balding J, Kane D, Livingstone W et al. Cytokine gene polymorphisms: association with psoriatic arthritis susceptibility and severity. Arthritis Rheum 2003; 48:1408-13.

Barkhordari E, Rezaei N, Ansaripour B et al. Proinflammatory cytokine gene polymorphisms in irritable bowel syndrome. J Clin Immunol 2010; 30:74-9.

Barnes PF, Fong SJ, Brennan PJ, Twomey PE, Mazumder A, Modlin RL. Local production of tumor necrosis factor and IFN-gamma in tuberculous pleuritis. J Immun 1990; 145:149-54.

Cerri AP, Arosio B, Viazzoli C, Confalonieri R, Vergani C, Annoni G. The -308 (G/A) single nucleotide polymorphism in the TNF-alpha gene and the risk of major depression in the elderly. Int J Geriatr Psychiatry 2010; 25:219-23.

Coenen MJ, Toonen EJ, Scheffer H, Radstake TR, Barrera P, Franke B. Pharmacogenetics of anti-TNF treatment in patients with rheumatoid arthritis. Pharmacogenomics 2007; 8:761-73.

Czerski PM, Rybakowski F, Kapelski P et al. Association of tumor necrosis factor -308G/A promoter polymorphism with schizophrenia and bipolar affective disorder in a Polish Population. Neuropsychobiology 2008; 57:88-94.

Dhiman N, Haralambieva IH, Kennedy RB et al. SNP/haplotype associations in cytokine and cytokine receptor genes and immunity to rubella vaccine. Immunogenetics 2010; 62:197-210.

Dhiman N, Ovsyannikova IG, Vierkant RA, Pankratz VS, Jacobson RM, Poland GA. Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population. Tissue Antigens 2008; 72:211-20.

Fan HM, Wang Z, Feng FM et al. Association of TNF-alpha-238G/A and 308 G/A gene polymorphisms with pulmonary tuberculosis among patients with coal worker’s pneumoconiosis. Biomed Environ Sci 2010; 23:137-45.

Ferguson LR, Huebner C, Petermann I et al. Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk. World J Gastroenterol 2008; 14:4652-61.

Fowler EV, Eri R, Hume G et al. TNF-alpha and IL10 SNPs act together to predict disease behaviour in Crohn’s disease. J Med Genet 2005; 42:523-8.

Garrity-Park MM, Loftus EV Jr, Bryant SC, Sandborn WJ, Smyrk TC. Tumor necrosis factor-alpha polymorphisms in ulcerative colitis-associated colorectal cancer. Am J Gastroenterol 2008; 103:407-15.

Ghosh J, Joshi G, Pradhan S, Mittal B. Investigation of TNFA 308G > A and TNFB 252G > A polymorphisms in genetic susceptibility to migraine. J Neurol 2010; 257:898-904.

Gill RM, Lee TH, Utter GH et al. The TNF (-308A) polymorphism is associated with microchimerism in transfused trauma patients. Blood 2008; 111:3880-3.

Graham DS, Graham RR, Manku H et al. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 2008; 40:83-9.

Hirankarn N, Avihingsanon Y, Wongpiyabovorn J. Genetic susceptibility to SLE is associated with TNF-alpha gene polymorphism -863, but not -308 and -238, in Thai population. Int J Immunogenet 2007; 34:425-30.

Kooloos WM, de Jong DJ, Huizinga TW, Guchelaar HJ. Potential role of pharmacogenetics in anti-TNF treatment of rheumatoid arthritis and Crohn’s disease. Drug Discov Today 2007; 12:125-31.

Krasznai M, Szaniszlo K, Kraxner H et al. Association of TLR-4 and TNF-alpha polymorphisms with clinical symptoms and cytokine levels in patients with allergic rhinitis. Eur Arch Otorhinolaryngol 2011; 268 :561-7.

Kumar V, Khosla R, Gupta V, Sarin BC, Sehajpal PK. Differential association of tumour necrosis factor-alpha single nucleotide polymorphism (-308) with tuberculosis and bronchial asthma. Natl Med J India 2008; 21:120-2.

Lee YH, Harley JB, Nath SK. Meta-analysis of TNF-alpha promoter -308A/G polymorphism and SLE susceptibility. Europ J Hum Genet 2006; 14:364-71.

López-Soriano J, Llovera M, Carbó N, García-Martínez C, López-Soriano FJ, Argiles JM. Lipid metabolism in tumour-bearing mice: studies with knockout mice for tumour necrosis factor receptor 1 protein. Mol Cell Endocrinol 1997; 132:93-9.

Miceli-Richard C, Comets E, Verstuyft C et al. A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis. Ann Rheum Dis 2008; 67:478-84.

Mohamed AA, Rashed LA, Shaker SM, Ammar RI. Association of tumor necrosis factor-a polymorphisms with susceptibility and clinical outcomes of rheumatic heart disease. Saudi Med J 2010; 31:644-9.

Naz M, Riaz M, Saleem M. Potential role of Neuregulin 1 and TNF-alpha (-308) polymorphism in schizophrenia patients visiting hospitals in Lahore, Pakistan. Mol Biol Rep 2011; 38:4709-14.

Neben K, Mytilineos J, Moehler TM et al. Polymorphisms of the tumor necrosis factor-alpha gene promoter predict for outcome after thalidomide therapy in relapsed and refractory multiple myeloma. Blood 2002; 100:2263-5.

Nikolova PN, Ivanova MI, Mihailova SM et al. Cytokine gene polymorphism in kidney transplantation-impact of TGF-beta 1, TNF-alpha and IL-6 on graft outcome. Transpl Immunol 2008; 18:344-8.

Ovsyannikova IG, Vierkant RA, Pankratz VS, Jacobson RM, Poland GA. Extended LTA, TNF, LST1 and HLA gene haplotypes and their association with rubella vaccine-induced immunity. PLoS One 2010. doi:10. 1371/journal. pone. 0011806.

Pacheco AG, Cardoso CC, Moraes MO. IFNG +874T/A, IL10 -1082G/A and TNF -308G/A polymorphisms in association with tuberculosis susceptibility: a meta-analysis study. Hum Gene 2008; 123:477-84.

Park YK, Lee JM, Kim do Y et al. Association Between Polymorphism of Tumor Necrosis Factor-alpha Promoter and Response to Lamivudine Treatment in Patients with Chronic Hepatitis B. Dig Dis Sci 2010; 55:2043-8.

Ramos EM, Lin MT, Larson EB et al. Tumor necrosis factor alpha and interleukin 10 promoter region polymorphisms and risk of late-onset Alzheimer disease. Arch Neurol 2006; 63:1165-9.

Rodríguez-Nóvoa S, Barreiro P, Jiménez-Nácher I, Soriano V. Overview of the pharmacogenetics of HIV therapy. Pharmacogenomics J 2006; 6:234-45.

Schinzari F, Armuzzi A, de Pascalis B et al. Tumor necrosis factor-alpha antagonism improves endothelial dysfunction in patients with Crohn’s disease. Clin Pharmacol Ther 2008; 83:70-6.

Settin A, Abdel-Hady H, El-Baz R, Saber I. Gene polymorphisms of TNF-alpha(-308), IL-10(-1082), IL-6(-174), and IL-1Ra(VNTR) related to susceptibility and severity of rheumatic heart disease. Pediatr Cardiol 2007; 5:363-71.

Skoog I, Kalaria RN, Breteler MM. Vascular factors and Alzheimer disease. Alzheimer Dis Assoc Disord 1999; 13:106-14.

Stayoussef M, Benmansour J, Al-Jenaidi FA et al. Identification of specific tumor necrosis factor-α-susceptible and -protective haplotypes associated with the risk of type 1 diabetes. Eur Cytokine Netw 2010; 21:285-91.

Tahara T, Shibata T, Nakamura M et al. Effect of IL-1β and TNF-α polymorphisms on the prognosis and survival of gastric cancer patients. Clin Exp Med 2011. doi:10. 1007/s10238-010-0129-y.

Takahashi T, Takahashi K, Yamashina M et al. Association of the TNF-{alpha}-C-857T polymorphism with resistance to the cholesterol-lowering effect of HMG-CoA reductase inhibitors in type 2 diabetic subjects. Diabetes Care 2010; 33:463-6.

Touma Z, Farra C, Hamdan A et al. TNF polymorphisms in patients with Behçet disease: a meta-analysis. Arch Med Res 2010; 41:142-6.

Tsai CH, Tung KY, Chen CH, Lee YL. Tumour necrosis factor G-308A polymorphism modifies the effect of home dampness on childhood asthma. Occup Environ Med 2011; 68:771-6.

Wang B, Wang J, Zheng Y et al. A study of TNF-alpha-238 and -308 polymorphisms with different outcomes of persistent hepatitis B virus infection in China. Pathology 2010; 42:674-80.

Wang YC, Bai YM, Chen JY, Lin CC, Lai IC, Liou YJ. Genetic association between TNF-alpha -308 G>A polymorphism and longitudinal weight change during clozapine treatment. Hum Psychopharmacol 2010; 25:303-9.

Yang Y, Luo C, Feng R, Bi S. The TNF-α, IL-1B and IL-10 polymorphisms and risk for hepatocellular carcinoma: a meta-analysis. J Cancer Res Clin Oncol 2011; 137:947-52.

Yang Y, Sun R, Yang H, Zheng F, Gong F. -308 G>A of TNF-α gene promoter decreases the risk of multiple sclerosis: a meta-analysis. Mult Scler 2011; 17:658-65.

TNFRSF1A (tumor necrosis factor receptor superfamily, member 1A)

Arkwright PD, McDermott MF, Houten SM et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002; 130:484-8.

Davidson SI, Liu Y, Danoy PA et al. Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese. Ann Rheum Dis 2011; 70:289-92.

de Jager PL, Jia X, Wang J et al. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet 2009; 41:776-82.

Dieudé P, Osorio J, Petit-Teixeira E et al. A TNFR1 genotype with a protective role in familial rheumatoid arthritis. Arthritis Rheum 2004; 50:413-9.

Drewe E, Huggins ML, Morgan AG, Cassidy MJ, Powell RJ. Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome. Rheumatology 2004; 43:1405-8.

Glossop JR, Dawes PT, Nixon NB, Mattey DL. Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis. Arthritis Res Ther 2005; 7:1227-34.

Kümpfel T, Hoffmann LA, Pellkofer H et al. Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases. Neurology 2008; 71:1812-20.

Mao XJ, Zhang XM, Zhang HL et al. TNF-alpha receptor 1 deficiency reduces antigen-presenting capacity of Schwann cells and ameliorates experimental autoimmune neuritis in mice. Neurosci Lett 2010; 470:19-23.

McDermott MF, Aksentijevich I, Galon J et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97:133-44.

Poirier O, Nicaud V, Gariépy J et al. Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness-the ECTIM, AXA, EVA and GENIC Studies. Eur J Hum Genet 2004; 12:213-9.

Romanatto T, Roman EA, Arruda AP et al. Deletion of tumor necrosis factor-alpha receptor 1 (TNFR1) protects against diet-induced obesity by means of increased thermogenesis. J Biol Chem 2009; 284:36213-22.

Stojanov S, Dejaco C, Lohse P et al. Clinical and functional characterisation of a novel TNFRSF1A c. 605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. Ann Rheum Dis 2008; 67:1292-8.

Tchernitchko D, Chiminqgi M, Galactéros F et al. Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations. Eur J Hum Genet 2005; 13:513-5.

TNFRSF1B (tumor necrosis factor receptor subfamily, member 1B)

Criswell LA, Lum RF, Turner KN et al. The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept. Arthritis Rheum 2004; 50:2750-6.

Fairfax BP, Davenport EE, Makino S, Hill AV, Vannberg FO, Knight JC. A common haplotype of the TNF receptor 2 gene modulates endotoxin tolerance. J Immunol 2011; 186:3058-65.

Kiyohara C, Washio M, Horiuchi T et al. Cigarette smoking, STAT4 and TNFRSF1B polymorphisms, and systemic lupus erythematosus in a Japanese population. J Rheumatol 2009; 36:2195-203.

Mascheretti S, Hampe J, Kühbacher T et al. Pharmacogenetic investigation of the TNF/TNF-receptor system in patients with chronic active Crohn’s disease treated with infliximab. Pharmacogenomics J 2002; 2:127-36.

Möller M, Flachsbart F, Till A et al. A functional haplotype in the 3’untranslated region of TNFRSF1B is associated with tuberculosis in two African populations. Am J Respir Crit Care Med 2010; 181:388-93.

Sashio H, Tamura K, Ito R et al. Polymorphisms of the TNF gene and the TNF receptor superfamily member 1B gene are associated with susceptibility to ulcerative colitis and Crohn’s disease, respectively. Immunogenetics 2002; 53:1020-7.

TOP1 (topoisomerase (DNA) I)

Antony S, Kohlhagen G, Agama K et al. Cellular topoisomerase I inhibition and antiproliferative activity by MJ-III-65 (NSC 706744), an indenoisoquinoline topoisomerase I poison. Mol Pharmacol 2005; 67:523-30.

Chang JY, Liu JF, Juang SH, Liu TW, Chen LT. Novel mutation of topoisomerase I in rendering cells resistant to camptothecin. Cancer Res 2002; 62:3716-21.

El-Khamisy SF, Katyal S, Patel P, Ju L, McKinnon PJ, Caldecott KW. Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin. DNA Repair 2009; 8:760-6.

Hoskins JM, Marcuello E, Altes A et al. Irinotecan pharmacogenetics: influence of pharmacodynamic genes. Clin Cancer Res 2008; 14:1788-96.

Khan QA, Pilch DS. Topoisomerase I-mediated DNA cleavage induced by the minor groove-directed binding of bibenzimidazoles to a distal site. J Mol Biol 2007; 365:561-9.

Pilch DS, Xu Z, Sun Q, LaVoie EJ, Liu LF, Breslauer KJ. A terbenzimidazole that preferentially binds and conformationally alters structurally distinct DNA duplex domains: a potential mechanism for topoisomerase I poisoning. Proc Natl Acad Sci USA 1997; 94:13565-70.

Pourquier P, Gioffre C, Kohlhagen G et al. Gemcitabine (2’,2’-difluoro-2’-deoxycytidine), an antimetabolite that poisons topoisomerase I. Clin Cancer Res 2002; 8:2499-504.

Pourquier P, Takebayashi Y, Urasaki Y, Gioffre C, Kohlhagen G, Pommier Y. Induction of topoisomerase I cleavage complexes by 1-beta -D-arabinofuranosylcytosine (ara-C) in vitro and in ara-C-treated cells. Proc Natl Acad Sci U S A 2000; 97:1885-90.

Song J, Parker L, Hormozi L, Tanouye MA. DNA topoisomerase I inhibitors ameliorate seizure-like behaviors and paralysis in a Drosophila model of epilepsy. Neuroscience 2008; 156:722-8.

Tamura H, Kohchi C, Yamada R et al. Molecular cloning of a cDNA of a camptothecin-resistant human DNA topoisomerase I and identification of mutation sites. Nucleic Acids Res 1991; 19:69-75.

Urasaki Y, Laco G, Takebayashi Y, Bailly C, Kohlhagen G, Pommier Y. Use of camptothecin-resistant mammalian cell lines to evaluate the role of topoisomerase I in the antiproliferative activity of the indolocarbazole, NB-506, and its topoisomerase I binding site. Cancer Res 2001; 61:504-8.

Wu N, Wu XW, Agama K et al. A novel DNA topoisomerase I inhibitor with different mechanism from camptothecin induces G2/M phase cell cycle arrest to K562 cells. Biochemistry 2010; 49:10131-6.

TP53 (tumor protein p53)

Borkowska E, Binka-Kowalska A, Constantinou M, Nawrocka A, Matych J, Kałuzewski B. P53 mutations in urinary bladder cancer patients from Central Poland. J Appl Genet 2007; 48:177-83.

Chang-Claude J, Ambrosone CB, Lilla C et al. Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer. Br J Cancer 2009; 100:1680-6.

Crook T, Vousden KH. Properties of p53 mutations detected in primary and secondary cervical cancers suggest mechanisms of metastasis and involvement of environmental carcinogens. EMBO J 1992; 11:3935-40.

Danesi R, Pasqualetti G, Giovannetti E et al. Pharmacogenomics in non-small-cell lung cancer chemotherapy. Adv Drug Deliv Rev 2009; 61:408-17.

Danesi R, Pasqualetti G, Giovannetti E, del Tacca M. The role of pharmacogenetics in adjuvant treatment of non-small cell lung cancer. J Thorac Oncol 2007; 2:27-30.

El Hallani S, Ducray F, Idbaih A et al. TP53 codon 72 polymorphism is associated with age at onset of glioblastoma. Neurology 2009; 72:332-6.

Fernández-Rubio A, López-Cima MF, González-Arriaga P et al. The TP53 Arg72Pro polymorphism and lung cancer risk in a population of Northern Spain. Lung Cancer 2008; 61:309-16.

Giovannetti E, Mey V, Nannizzi S, Pasqualetti G, del Tacca M, Danesi R. Pharmacogenetics of anticancer drug sensitivity in pancreatic cancer. Mol Cancer Ther 2006; 5:1387-95.

Gomez-Sanchez JC, Delgado-Esteban M, Rodriguez-Hernandez I et al. The human Tp53 Arg72Pro polymorphism explains different functional prognosis in stroke. J Exp Med 2011; 208:429-37.

Hsu IC, Metcalf RA, Sun T, Welsh JA, Wang NJ, Harris CC. Mutational hotspot in the p53 gene in human hepatocellular carcinomas. Nature 1991; 350:427-8.

Izumi T, Io K, Matsui M et al. HIV-1 viral infectivity factor interacts with TP53 to induce G2 cell cycle arrest and positively regulate viral replication. Proc Natl Acad Sci USA 2010; 107:20798-803.

Jiang DK, Yao L, Wang WZ et al. TP53 Arg72Pro polymorphism is associated with esophageal cancer risk: A meta-analysis. World J Gastroenterol 2011; 17:1227-33.

Khan ZA, Jonas SK, Feldmann KA et al. P53 mutation and response to hepatic arterial floxuridine in patients with colorectal liver metastases. J Cancer Res Clin Oncol 2001; 127:675-80.

Kim HN, Yu L, Kim NY et al. Association with TP53 codon 72 polymorphism and the risk of non-Hodgkin lymphoma. Am J Hematol 2010; 85:822-4.

Kim YH, Nobusawa S, Mittelbronn M et al. Molecular classification of low-grade diffuse gliomas. Am J Pathol 2010; 177:2708-14.

Kochethu G, Delgado J, Pepper C et al. Two germ line polymorphisms of the tumour suppressor gene p53 may influence the biology of chronic lymphocytic leukaemia. Leuk Res 2006; 30:1113-8.

Koshiol J, Hildesheim A, Gonzalez P et al. Common genetic variation in TP53 and risk of human papillomavirus persistence and progression to CIN3/cancer revisited. Cancer Epidemiol Biomarkers Prev 2009; 18:1631-7.

Laurent C, Svrcek M, Flejou JF et al. Immunohistochemical expression of CDX2, β-catenin, and TP53 in inflammatory bowel disease-associated colorectal cancer. Inflamm Bowel Dis 2011; 17:232-40.

Litviakov NV, Denisov EV, Takhauov RM et al. Association between TP53 gene ARG72PRO polymorphism and chromosome aberrations in human cancers. Mol Carcinog 2010; 49:521-4.

Luo W, Wu F, Elmaoued R et al. Amifostine enhancement of the anti-cancer effects of paclitaxel in endometrial cancer is TP53-dependent. Int J Oncol 2010; 37:1187-94.

Marsh S, Paul J, King CR, Gifford G, McLeod HL, Brown R. Pharmacogenetic assessment of toxicity and outcome after platinum plus taxane chemotherapy in ovarian cancer: the Scottish Randomised Trial in Ovarian Cancer. J Clin Oncol 2007; 25:4528-35.

Martínez-Cruz AB, Santos M, García-Escudero R et al. Spontaneous tumor formation in Trp53-deficient epidermis mediated by chromosomal instability and inflammation. Anticancer Res 2009; 29:3035-42.

Ni X, Trakalo J, Valente J et al. Human p53 tumor suppressor gene (TP53) and schizophrenia: case-control and family studies. Neurosci Lett 2005; 388:173-8.

Pishas KI, Al-Ejeh F, Zinonos I et al. Nutlin-3a is a potential therapeutic for ewing sarcoma. Clin Cancer Res 2011; 17:494-504.

Qu L, He B, Pan Y et al. Association between polymorphisms in RAPGEF1, TP53, NRF1 and type 2 diabetes in Chinese Han population. Diabetes Res Clin Pract 2011; 91:171-6.

Schildkraut JM, Goode EL, Clyde MA et al. Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer. Cancer Res 2009; 69:2349-57.

Talar-Wojnarowska R, Gasiorowska A, Smolarz B et al. Comparative evaluation of p53 mutation in pancreatic adenocarcinoma and chronic pancreatitis. Hepatogastroenterology 2006; 53:608-12.

Tempfer CB, Schneeberger C, Huber JC. Applications of polymorphisms and pharmacogenomics in obstetrics and gynecology. Pharmacogenomics 2004; 5:57-65.

Toguchida J, Yamaguchi T, Ritchie B et al. Mutation spectrum of the p53 gene in bone and soft tissue sarcomas. Cancer Res 1992; 52:6194-9.

Tsai MS, Chiu YT, Wang SH, Hsieh-Li HM, Li H. Abolishing Trp53-dependent apoptosis does not benefit spinal muscular atrophy model mice. Eur J Hum Genet 2006; 14:372-5.

Vikhanskaya F, Siddique MM, Kei Lee M, Broggini M, Sabapathy K. Evaluation of the combined effect of p53 codon 72 polymorphism and hotspot mutations in response to anticancer drugs. Clin Cancer Res 2005; 11:4348-56.

Vilas-Zornoza A, Agirre X, Martín-Palanco V et al. Frequent and simultaneous epigenetic inactivation of TP53 pathway genes in acute Lymphoblastic Leukemia. PLoS One 2011. doi:10. 1371/journal. pone. 0017012.

Wang B, Wang D, Zhang D et al. Pro variant of TP53 Arg72Pro contributes to esophageal squamous cell carcinoma risk: evidence from a meta-analysis. Eur J Cancer Prev 2010; 19:299-307.

Wegman P, Stal O, Askmalm MS, Nordenskjöld B, Rutqvist LE, Wingren S. p53 polymorphic variants at codon 72 and the outcome of therapy in randomized breast cancer patients. Pharmacogenet Genomics 2006; 16:347-51.

Woo HG, Wang XW, Budhu A et al. Association of TP53 mutations with stem cell-like gene expression and survival of patients with hepatocellular carcinoma. Gastroenterology 2011; 140:1063-70.

Xiao M, Zhang L, Zhu X et al. Genetic polymorphisms of MDM2 and TP53 genes are associated with risk of nasopharyngeal carcinoma in a Chinese population. BMC Cancer 2010; 10:147.

Zhou J, Liu M, Zhai Y, Xie W. The antiapoptotic role of pregnane X receptor in human colon cancer cells. Mol Endocrinol 2008; 22:868-80.

TPH1 (tryptophan hydroxylase 1)

David SP, Johnstone EC, Murphy MF et al. Genetic variation in the serotonin pathway and smoking cessation with nicotine replacement therapy: new data from the Patch in Practice trial and pooled analyses. Drug Alcohol Depend 2008; 98:77-85.

Gizatullin R, Zaboli G, Jönsson EG, Asberg M, Leopardi R. Haplotype analysis reveals tryptophan hydroxylase (TPH) 1 gene variants associated with major depression. Biol Psychiatry 2006; 59:295-300.

Ham BJ, Lee BC, Paik JW et al. Association between the tryptophan hydroxylase-1 gene A218C polymorphism and citalopram antidepressant response in a Korean population. Prog Neuropsychopharmacol Biol Psychiatry 2007; 31:104-7.

Jun S, Kohen R, Cain KC, Jarrett ME, Heitkemper MM. Associations of tryptophan hydroxylase gene polymorphisms with irritable bowel syndrome. Neurogastroenterol Motil 2011; 23:233-9.

Kato M, Serretti A. Review and meta-analysis of antidepressant pharmacogenetic findings in major depressive disorder. Mol Psychiatry 2010; 15:473-500.

Monteleone P, Tortorella A, Martiadis V, Serino I, Di Filippo C, Maj M. Association between A218C polymorphism of the tryptophan-hydroxylase-1 gene, harm avoidance and binge eating behavior in bulimia nervosa. Neurosci Lett 2007; 42:42-6.

Peters EJ, Slager SL, Jenkins GD et al. Resequencing of serotonin-related genes and association of tagging SNPs to citalopram response. Pharmacogenet Genomics 2009; 19:1-10.

Peters EJ, Slager SL, McGrath PJ, Knowles JA, Hamilton SP. Investigation of serotonin-related genes in antidepressant response. Mol Psychiatry 2004; 9:879-89.

Saetre P, Lundmark P, Wang A et al. The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis. Am J Med Genet B Neuropsychiatr Genet 2010; 153:387-96.

Viikki M, Kampman O, Illi A et al. TPH1 218A/C polymorphism is associated with major depressive disorder and its treatment response. Neurosci Lett 2010; 468:80-4.

TPH2 (tryptophan hydroxylase 2)

Armbruster D, Mueller A, Strobel A, Kirschbaum C, Lesch KP, Brocke B. Influence of functional tryptophan hydroxylase 2 gene variation and sex on the startle response in children, young adults, and older adults. Biol Psychol 2010; 83:214-21.

Campos SB, Miranda DM, Souza BR et al. Association study of tryptophan hydroxylase 2 gene polymorphisms in bipolar disorder patients with panic disorder comorbidity. Psychiatr Genet 2011; 21:106-11.

Inoue H, Yamasue H, Tochigi M et al. Effect of tryptophan hydroxylase-2 gene variants on amygdalar and hippocampal volumes. Brain Res 2010; 1331:51-7.

Jung A, Huge A, Kuhlenbäumer G et al. Genetic TPH2 variants and the susceptibility for migraine: association of a TPH2 haplotype with migraine without aura. J Neural Transm 2010; 117:1253-60.

Kato T. Molecular genetics of bipolar disorder and depression. Psychiatry Clin Neurosci 2007; 61:3-19.

Park SW, Ban JY, Yoon KL et al. Involvement of tryptophan hydroxylase 2 (TPH2) gene polymorphisms in susceptibility to coronary artery lesions in Korean children with Kawasaki disease. Eur J Pediatr 2010; 169:457-61.

Perlis RH. Pharmacogenetic studies of antidepressant response: how far from the clinic? Psychiatr Clin North Am 2007; 30:125-38.

Peters EJ, Slager SL, McGrath PJ, Knowles JA, Hamilton SP. Investigation of serotonin-related genes in antidepressant response. Mol Psychiatry 2004; 9:879-89.

Sheehan K, Lowe N, Kirley A et al. Tryptophan hydroxylase 2 (TPH2) gene variants associated with ADHD. Mol Psychiatry 2005; 10:944-9.

Slof-Op ‘t Landt MC, Meulenbelt I, Bartels M et al. Association study in eating disorders: TPH2 associates with anorexia nervosa and self-induced vomiting. Genes Brain Behav 2011; 10:236-243.

Tsai SJ, Hong CJ, Liou YJ et al. Tryptophan hydroxylase 2 gene is associated with major depression and antidepressant treatment response. Prog Neuropsychopharmacol Biol Psychiatry 2009; 33:637-41.

Tzvetkov MV, Brockmöller J, Roots I, Kirchheiner J. Common genetic variations in human brain-specific tryptophan hydroxylase-2 and response to antidepressant treatment. Pharmacogenet Genomics 2008; 18:495-506.

Zhang C, Li Z, Shao Y et al. Association study of tryptophan hydroxylase-2 gene in schizophrenia and its clinical features in chinese han population. J Mol Neurosci 2011; 43:406-11.

TPMT (thiopurine S-methyltransferase)

Buster EH, van Vuuren HJ, Zondervan PE, Metselaar HJ, Tilanus HW, de Man RA. Thiopurine-methyltransferase and inosine triphosphate pyrophosphatase polymorphism in a liver transplant recipient developing nodular regenerative hyperplasia on low-dose azathioprine. Eur J Gastroenterol Hepatol 2008; 1:68-72.

Chowdhury J, Kagiala GV, Pushpakom S et al. Microfluidic platform for single nucleotide polymorphism genotyping of the thiopurine S-methyltransferase gene to evaluate risk for adverse drug events. J Mol Diagnostics 2007; 4:521-9.

Chrzanowska M, Kurzawski M, Drozdzik M, Mazik M, Oko A, Czekalski S. Thiopurine S-methyltransferase phenotype-genotype correlation in hemodialyzed patients. Pharmacological reports 2007; 6:973-78.

Fakhoury M, Andreu-Gallien J, Mahr A et al. Should TPMT genotype and activity be used to monitor 6-mercaptopurine treatment in children with acute lymphoblastic leukaemia? J Clin Pharmacy and therapeutics 2007; 6:633-9.

Fargher EA, Tricker K, Newman W et al. Current use of pharmacogenetic testing: a national survey of thiopurine methyltransferase testing prior to azathioprine prescription. J Clin Pharm Ther 2007; 2:187-95.

Gisbert JP, Gomollón F, Cara C et al. Thiopurine methyltransferase activity in Spain: a study of 14,545 patients. Dig Dis Sci 2007; 5:1262-9.

Hartford C, Vasquez E, Schwab M et al. Differential effects of targeted disruption of thiopurine methyltransferase on mercaptopurine and thioguanine pharmacodynamics. Cancer Res 2007; 67:4965-72.

Kapoor G, Sinha R, Naithani R, Chandgothia M. Thiopurine S-methyltransferase gene polymorphism and 6-mercaptopurine dose intensity in Indian children with acute lymphoblastic leukemia. Leuk Res 2010; 34:1023-6.

Kim JH, Cheon JH, Hong SS et al. Influences of thiopurine methyltransferase genotype and activity on thiopurine-induced leukopenia in Korean patients with inflammatory bowel disease: a retrospective cohort study. J Clin Gastroenterol 2010; 44:242-8.

Kurzawski M, Dziewanowski K, Lener A, Drozdzik M. TPMT but not ITPA gene polymorphism influences the risk of azathioprine intolerance in renal transplant recipients. Eur J Clin Pharmacol 2009; 65:533-40.

Lewis LD, Benin A, Szumlanski CL et al. Olsalazine and 6-mercaptopurine-related bone marrow suppression: a possible drug-drug interaction. Clin Pharmacol Ther 1997; 62:464-75.

Litos IK, Emmanouilidou E, Glynou KM et al. Rapid genotyping of CYP2D6, CYP2C19 and TPMT polymorphisms by primer extension reaction in a dipstick format. Analyt Bioanalyt Chemistry 2007; 6:1849-57.

Pakakasama S, Kanchanakamhaeng K, Kajanachumpol S et al. Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia. Ann Hematol 2007; 8:609-11.

Peregud-Pogorzelski J, Tetera-Rudnicka E, Kurzawski M et al. Thiopurine S-methyltransferase (TPMT) polymorphisms in children with acute lymphoblastic leukemia, and the need for reduction or cessation of 6-mercaptopurine doses during maintenance therapy: The Polish multicenter analysis. Pediatr Blood Cancer 2011; 57:578-82.

Relling MV, Hancock ML, Rivera GK et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J Natl Cancer Inst 1999; 91:2001-8.

Roberts RL, Gearry RB, Bland MV et al. Trinucleotide repeat variants in the promoter of the thiopurine S-methyltransferase gene of patients exhibiting ultra-high enzyme activity. Pharmacogenetics and Genomics 2008; 5:434-8.

Rutherford K, Daggett V. Four human thiopurine s-methyltransferase alleles severely affect protein structure and dynamics. J Mol Biol 2008; 4:803-14.

Sasaki T, Goto E, Konno Y, Hiratsuka M, Mizugaki M. Three novel single nucleotide polymorphisms of the human thiopurine S-methyltransferase gene in Japanese individuals. Drug Met and pharmacokinetics 2006; 4:332-6.

Tamori A, Shinzaki M, Kosaka S et al. Thiopurine S-methyltransferase gene polymorphism in Japanese patients with autoimmune liver diseases. Liver Int 2007; 1:95-100.

TRPV1 (transient receptor potential cation channel, subfamily V, member 1)

Khairatkar-Joshi N, Szallasi A. TRPV1 antagonists: the challenges for therapeutic targeting. Trends Mol Med 2009; 15:14-22.

Tanaka H, Shimaya A, Kiso T, Kuramochi T, Shimokawa T, Shibasaki M. Enhanced insulin secretion and sensitization in diabetic mice on chronic treatment with a transient receptor potential vanilloid 1 antagonist. Life Sci 2011; 88:559-63.

Xu H, Tian W, Fu Y, Oyama TT, Anderson S, Cohen DM. Functional effects of nonsynonymous polymorphisms in the human TRPV1 gene. Am J Physiol Renal Physiol 2007; 293:1865-76.

TYMS (thymidylate synthetase)

Cho HJ, Park YS, Kang WK, Kim JW, Lee SY. Thymidylate synthase (TYMS) and dihydropyrimidine dehydrogenase (DPYD) polymorphisms in the Korean population for prediction of 5-fluorouracil-associated toxicity. Ther Drug Monit 2007; 2:190-6.

Chu J, Dolnick BJ. Natural antisense (rTS-alpha) RNA induces site-specific cleavage of thymidylate synthase mRNA. Biochim Biophys Acta 2002; 1587:183-93.

Gusella M, Padrini R. G>C SNP of thymidylate synthase with respect to colorectal cancer. Pharmacogenomics 2007; 8:985-96.

Kealey C, Brown KS, Woodside JV et al. A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations. Hum Genet 2005; 116:347-53.

Krajinovic M, Costea I, Chiasson S. Polymorphism of the thymidylate synthase gene and outcome of acute lymphoblastic leukaemia. Lancet 2002; 359:1033-4.

Lurje G, Zhang W, Yang D et al. Thymidylate synthase haplotype is associated with tumor recurrence in stage II and stage III colon cancer. Pharmacogenet Genomics 2008; 18:161-8.

Moore LE, Hung R, Karami S et al. Folate metabolism genes, vegetable intake and renal cancer risk in central Europe. Int J Cancer 2008; 8:1710-5.

Ooyama A, Okayama Y, Takechi T, Sugimoto Y, Oka T, Fukushima M. Genome-wide screening of loci associated with drug resistance to 5-fluorouracil-based drugs. Cancer Sci 2007; 4:577-83.

Rouissi K, Stambouli N, Marrakchi R et al. Smoking and polymorphisms in folate metabolizing genes and their effects on the histological stage and grade for bladder tumors. Bull Cancer 2011; 98:1-10.

Shitara K, Muro K, Ito S et al. Folate intake along with genetic polymorphisms in methylenetetrahydrofolate reductase and thymidylate synthase in patients with advanced gastric cancer. Cancer Epidemiol Biomarkers Prev 2010; 19:1311-9.

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