Gene References


DCK (deoxycytidine kinase)

Gröschel B, Himmel N, Cinatl J et al. ddC- and 3TC-bis(SATE) monophosphate prodrugs overcome cellular resistance mechanisms to HIV-1 associated with cytidine kinase deficiency. Nucleosides Nucleotides 1999; 18:921-6.

Joerger M, Bosch TM, Doodeman VD, Beijnen JH, Smits PH, Schellens JH. Novel deoxycytidine kinase gene polymorphisms: a population screening study in Caucasian healthy volunteers. Eur J Clin Pharmacol 2006; 62:681-4.

Kim SR, Saito Y, Maekawa K et al. Twenty novel genetic variations and haplotype structures of the DCK gene encoding human deoxycytidine kinase (dCK). Drug Metab Pharmacokinet 2008; 23:379-84.

Kocabas NA, Aksoy P, Pelleymounter LL et al. Gemcitabine pharmacogenomics: deoxycytidine kinase and cytidylate kinase gene resequencing and functional genomics. Drug Metab Dispos 2008; 36:1951-9.

Lamba JK, Crews K, Pounds S et al. Pharmacogenetics of deoxycytidine kinase: identification and characterization of novel genetic variants. J Pharmacol Exp Ther 2007; 323:935-45.

Mey V, Giovannetti E, de Braud F et al. In vitro synergistic cytotoxicity of gemcitabine and pemetrexed and pharmacogenetic evaluation of response to gemcitabine in bladder cancer patients. Br J Cancer 2006; 95:289-97.

Sebastiani V, Ricci F, Rubio-Viqueira B et al. Immunohistochemical and genetic evaluation of deoxycytidine kinase in pancreatic cancer: relationship to molecular mechanisms of gemcitabine resistance and survival. Clin Cancer Res 2006; 12:2492-7.

Sève P, Mackey JR, Isaac S et al. cN-II expression predicts survival in patients receiving gemcitabine for advanced non-small cell lung cancer. Lung Cancer 2005; 49:363-70.

Shi JY, Shi ZZ, Zhang SJ et al. Association between single nucleotide polymorphisms in deoxycytidine kinase and treatment response among acute myeloid leukaemia patients. Pharmacogenetics 2004; 14:759-68.

Stegmann AP, Honders MW, Hagemeijer A, Hoebee B, Willemze R, Landegent JE. In vitro-induced resistance to the deoxycytidine analogues cytarabine (AraC) and 5-aza-2’-deoxycytidine (DAC) in a rat model for acute myeloid leukemia is mediated by mutations in the deoxycytidine kinase (dck) gene. Ann Hematol 1995; 71:41-7.

Ueno H, Kiyosawa K, Kaniwa N. Pharmacogenomics of gemcitabine: can genetic studies lead to tailor-made therapy? Br J Cancer 2007; 97:145-51.

Veuger MJ, Honders MW, Landegent JE, Willemze R, Barge RM. A novel RT-PCR-based protein activity truncation assay for direct assessment of deoxycytidine kinase in small numbers of purified leukemic cells. Leukemia 2000; 14:1678-84.

Veuger MJ, Honders MW, Landegent JE, Willemze R, Barge RM. High incidence of alternatively spliced forms of deoxycytidine kinase in patients with resistant acute myeloid leukemia. Blood 2000; 96:1517-24.

DDC (dopa decarboxylase (aromatic L-amino acid decarboxylase))

Chang JW, Lee WY, Milstien S, Kang UJ. A site-specific mutation of tyrosine hydroxylase reduces feedback inhibition by dopamine in genetically modified cells grafted in parkinsonian rats. J Neurochem 2002; 83:141-9.

Chang YT, Sharma R, Marsh JL et al. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol 2004; 55:435-8.

Corominas R, Sobrido MJ, Ribasés M et al. Association study of the serotoninergic system in migraine in the Spanish population. Am J Med Genet B Neuropsychiatr Genet 2010; 153:177-84.

Giegling I, Moreno-de-Luca D, Calati R et al. Tyrosine hydroxylase and DOPA decarboxylase gene variants in personality traits. Neuropsychobiology 2009; 59:23-7.

Ichinose H, Ohye T, Fujita K et al. Quantification of mRNA of tyrosine hydroxylase and aromatic L-amino acid decarboxylase in the substantia nigra in Parkinson’s disease and schizophrenia. J Neural Transm Park Dis Dement Sect 1994; 8:149-58.

Ma JZ, Beuten J, Payne TJ, Dupont RT, Elston RC, Li MD. Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence. Hum Mol Genet 2005; 14:1691-8.

Menheniott TR, Woodfine K, Schulz R et al. Genomic imprinting of Dopa decarboxylase in heart and reciprocal allelic expression with neighboring Grb10. Mol Cell Biol 2008; 28:386-96.

Söderbergh A, Rorsman F, Halonen M et al. Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison’s disease. J Clin Endocrinol Metab 2000; 85:460-3.

Vos MD, Scott FM, Iwai N, Treston AM. Expression in human lung cancer cell lines of genes of prohormone processing and the neuroendocrine phenotype. J Cell Biochem Suppl 1996; 24:257-68.

DHODH (dihydroorotate dehydrogenase)

Baumann P, Mandl-Weber S, Völkl A et al. Dihydroorotate dehydrogenase inhibitor A771726 (leflunomide) induces apoptosis and diminishes proliferation of multiple myeloma cells. Mol Cancer Ther 2009; 8:366-75.

Davies M, Heikkilä T, McConkey GA, Fishwick CW, Parsons MR, Johnson AP. Structure-based design, synthesis, and characterization of inhibitors of human and Plasmodium falciparum dihydroorotate dehydrogenases. J Med Chem 2009; 52:2683-93.

Evers DL, Wang X, Huong SM, Andreoni KA, Huang ES. Inhibition of human cytomegalovirus signaling and replication by the immunosuppressant FK778. Antiviral Res 2005; 65:1-12.

Fitzsimmons WE, First MR. FK778, a synthetic malononitrilamide. Yonsei Med J 2004; 45:1132-5.

Heikkilä T, Thirumalairajan S, Davies M et al. The first de novo designed inhibitors of Plasmodium falciparum dihydroorotate dehydrogenase. Bioorg Med Chem Lett 2006; 16:88-92.

Liu S, Neidhardt EA, Grossman TH, Ocain T, Clardy J. Structures of human dihydroorotate dehydrogenase in complex with antiproliferative agents. Structure 2000; 8:25-33.

Patel V, Booker M, Kramer M et al. Identification and characterization of small molecule inhibitors of Plasmodium falciparum dihydroorotate dehydrogenase. J Biol Chem 2008; 283:35078-85.

Pawlik A, Herczynska M, Kurzawski M, Safranow K, Dziedziejko V, Drozdzik M. The effect of exon (19C>A) dihydroorotate dehydrogenase gene polymorphism on rheumatoid arthritis treatment with leflunomide. Pharmacogenomics 2009; 10:303-9.

Savikko J, von Willebrand E, Häyry P. Leflunomide analogue FK778 is vasculoprotective independent of its immunosuppressive effect: potential applications for restenosis and chronic rejection. Transplantation 2003; 76:455-8.

DIO2 (deiodinase, iodothyronine, type II)

Chistiakov DA, Savost’anov KV, Turakulov RI. Screening of SNPs at 18 positional candidate genes, located within the GD-1 locus on chromosome 14q23-q32, for susceptibility to Graves’ disease: a TDT study. Mol Genet Metab 2004; 83:264-70.

Cooper-Kazaz R, van der Deure WM, Medici M et al. Preliminary evidence that a functional polymorphism in type 1 deiodinase is associated with enhanced potentiation of the antidepressant effect of sertraline by triiodothyronine. J Affect Disord 2009; 116:113-6.

Dentice M, Marsili A, Ambrosio R et al. The FoxO3/type 2 deiodinase pathway is required for normal mouse myogenesis and muscle regeneration. J Clin Invest 2010; 120:4021-30.

Fiorito M, Torrente I, de Cosmo S et al. Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome. Obesity 2007; 15:2889-95.

Gouveia CH, Christoffolete MA, Zaitune CR et al. Type 2 iodothyronine selenodeiodinase is expressed throughout the mouse skeleton and in the MC3T3-E1 mouse osteoblastic cell line during differentiation. Endocrinology 2005; 146:195-200.

Guo TW, Zhang FC, Yang MS et al. Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China. J Med Genet 2004; 41:585-90.

He B, Li J, Wang G et al. Association of genetic polymorphisms in the type II deiodinase gene with bipolar disorder in a subset of Chinese population. Prog Neuropsychopharmacol Biol Psychiatry 2009; 33:986-90.

Heemstra KA, Hoftijzer HC, van der Deure WM et al. The Thr92Ala polymorphism in the type 2 deiodinase is not associated with thyroxine dose in athyroid patients or patients with Hashimoto thyroiditis. Clin Endocrinol 2009; 71:279-83.

Kim BW, Daniels GH, Harrison BJ et al. Overexpression of type 2 iodothyronine deiodinase in follicular carcinoma as a cause of low circulating free thyroxine levels. J Clin Endocrinol Metab 2003; 88:594-8.

Meulenbelt I, Min JL, Bos S et al. Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis. Hum Mol Genet 2008; 17:1867-75.

Panicker V, Saravanan P, Vaidya B et al. Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients. J Clin Endocrinol Metab 2009; 94:1623-9.

Peeters RP, van den Beld AW, Attalki H et al. A new polymorphism in the type II deiodinase gene is associated with circulating thyroid hormone parameters. Am J Physiol Endocrinol Metab 2005; 289:75-81.

Schneider MJ, Fiering SN, Pallud SE, Parlow AF, St Germain DL, Galton VA. Targeted disruption of the type 2 selenodeiodinase gene (DIO2) results in a phenotype of pituitary resistance to T4. Mol Endocrinol 2001; 15:2137-48.

Torlontano M, Durante C, Torrente I et al. Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patients. J Clin Endocrinol Metab 2008; 93:910-3.

DPP4 (dipeptidyl-peptidase 4)

Ahrén B, Winzell MS, Wierup N, Sundler F, Burkey B, Hughes TE. DPP-4 inhibition improves glucose tolerance and increases insulin and GLP-1 responses to gastric glucose in association with normalized islet topography in mice with beta-cell-specific overexpression of human islet amyloid polypeptide. Regul Pept 2007; 143:97-103.

Bergman A, Mistry GC, Luo WL et al. Dose-proportionality of a final market image sitagliptin formulation, an oral dipeptidyl peptidase-4 inhibitor, in healthy volunteers. Biopharm Drug Dispos 2007; 28:307-13.

Bouchard L, Faucher G, Tchernof A et al. Comprehensive genetic analysis of the dipeptidyl peptidase-4 gene and cardiovascular disease risk factors in obese individuals. Acta Diabetol 2009; 46:13-21.

Doupis J, Veves A. DPP4 inhibitors: a new approach in diabetes treatment. Adv Ther 2008; 25:627-43.

Flatt PR, Bailey CJ, Green BD. Dipeptidyl peptidase IV (DPP IV) and related molecules in type 2 diabetes. Front Biosci 2008; 13:3648-60.

Havre PA, Abe M, Urasaki Y, Ohnuma K, Morimoto C, Dang NH. The role of CD26/dipeptidyl peptidase IV in cancer. Front Biosci 2008; 13:1634-45.

Kelemen K, Guitart J, Kuzel TM, Goolsby CL, Peterson LC. The usefulness of CD26 in flow cytometric analysis of peripheral blood in Sézary syndrome. Am J Clin Pathol 2008; 129:146-56.

Kirino Y, Sato Y, Kamimoto T, Kawazoe K, Minakuchi K, Nakahori Y. Interrelationship of dipeptidyl peptidase IV (DPP4) with the development of diabetes, dyslipidaemia and nephropathy: a streptozotocin-induced model using wild-type and DPP4-deficient rats. J Endocrinol 2009; 200:53-61.

Kyle KA, Willett TL, Baggio LL, Drucker DJ, Grynpas MD. Differential effects of PPAR-{gamma} activation versus chemical or genetic reduction of DPP-4 activity on bone quality in mice. Endocrinology 2011; 152:457-67.

Mannucci E, Pala L, Ciani S et al. Hyperglycaemia increases dipeptidyl peptidase IV activity in diabetes mellitus. Diabetologia 2005; 48:1168-72.

Maruta J, Hashimoto H, Yamashita H, Yamashita H, Noguchi S. Diagnostic applicability of dipeptidyl aminopeptidase IV activity in cytological samples for differentiating follicular thyroid carcinoma from follicular adenoma. Arch Surg 2004; 139:83-8.

Narducci MG, Scala E, Bresin A et al. Skin homing of Sézary cells involves SDF-1-CXCR4 signaling and down-regulation of CD26/dipeptidylpeptidase IV. Blood 2006; 107:1108-15.

Ohtsuki T, Tsuda H, Morimoto C. Good or evil: CD26 and HIV infection. J Dermatol Sci 2000; 22:152-60.

Richter B, Bandeira-Echtler E, Bergerhoff K, Lerch C. Emerging role of dipeptidyl peptidase-4 inhibitors in the management of type 2 diabetes. Vasc Health Risk Manag 2008; 4:753-68.

Sato Y, Koshioka S, Kirino Y et al. Role of dipeptidyl peptidase IV (DPP4) in the development of dyslipidemia: DPP4 contributes to the steroid metabolism pathway. Life Sci 2011; 88:43-9.

Tahrani AA, Piya MK, Barnett AH. Saxagliptin: a new DPP-4 inhibitor for the treatment of type 2 diabetes mellitus. Adv Ther 2009; 26:249-62.

DPYD (dihydropyrimidine dehydrogenase)

Albin N, Johnson MR, Shahinian H, Wang K, Diasio RB. Initial characterization of the molecular defect in human dihydropyrimidine dehydrogenase deficiency. Proc Am Assoc Cancer Res 1995; 36:211.

Amstutz U, Farese S, Aebi S, Largiadèr CR. Hypermethylation of the DPYD promoter region is not a major predictor of severe toxicity in 5-fluorouracil based chemotherapy. J Exp Clin Cancer Res 2008; 27:54.

Amstutz U, Farese S, Aebi S, Largiadèr CR. Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. Pharmacogenomics 2009; 10:931-44.

Gross E, Busse B, Riemenschneider M et al. Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. PLoS One 2008. doi:10. 1371/journal. pone. 0004003.

Gross E, Ullrich T, Seck K et al. Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects. Hum Mutat 2003; 22:498.

Hayashi K, Kidouchi K, Sumi S et al. Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria. Clin Cancer Res 1996; 2:1937-41.

Huang RS, Ratain MJ. Pharmacogenetics and pharmacogenomics of anticancer agents. CA Cancer J Clin 2009; 59:42-55.

Johnson MR, Wang K, Diasio RB. Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res 2002; 8:768-74.

Kleibl Z, Fidlerova J, Kleiblova P et al. Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy. Neoplasma 2009; 56:303-16.

Mattison LK, Johnson MR, Diasio RB. A comparative analysis of translated dihydropyrimidine dehydrogenase cDNA; conservation of functional domains and relevance to genetic polymorphisms. Pharmacogenetics 2002; 12:133-44.

McLeod HL, Collie-Duguid ESR, Vreken P et al. Nomenclature for human DPYD alleles. Pharmacogenetics 1998; 8:455-9.

Meinsma R, Fernandez-Salguero P, van Kuilenburg ABP, van Gennip AH, Gonzalez FJ. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea (sic). DNA Cell Biol 1995; 14:1-6.

Mercier C, Ciccolini J. Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy. Clin Colorectal Cancer 2006; 6:288-96.

Saif MW, Ezzeldin H, Vance K, Sellers S, Diasio RB. DPYD*2A mutation: the most common mutation associated with DPD deficiency. Cancer Chemother Pharmacol 2007; 60:503-7.

Salgueiro N, Veiga I, Fragoso M et al. Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients. Genet Med 2004; 6:102-7.

Takizawa M, Kawakami K, Obata T et al. In vitro sensitivity to platinum-derived drugs is associated with expression of thymidylate synthase and dihydropyrimidine dehydrogenase in human lung cancer. Oncol Rep 2006; 15:1533-9.

van Kuilenburg AB, de Abreu RA, van Gennip AH. Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. Ann Clin Biochem 2003; 40:41-5.

van Kuilenburg AB, Meijer J, Dobritzsch D et al. Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria. Nucleosides Nucleotides Nucleic Acids 2008; 27:809-15.

van Kuilenburg AB, Meijer J, Mul AN et al. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13. 3p21. 3). Hum Genet 2009; 125:581-90.

van Kuilenburg AB, Meinsma R, Zoetekouw L, van Gennip AH. High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. Pharmacogenetics 2002; 12:555-8.

van Kuilenburg ABP, van Lenthe H, Blom MJ, Mul EPJ, van Gennip AH. Profound variation in dihydropyrimidine dehydrogenase activity in human blood cells: major implications for the detection of partly deficient patients. Brit J Cancer 1999; 79:620-6.

Vreken P, van Kuilenburg ABP, Meinsma R, van Gennip AH. Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Hum Genet 1997; 101:333-8.

Wei X, McLeod HL, McMurrough J, Gonzalez FJ, Fernandez-Salguero P. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J Clin Invest 1996; 98:610-5.

Zhang H, Li YM, Zhang H, Jin X. DPYD*5 gene mutation contributes to the reduced DPYD enzyme activity and chemotherapeutic toxicity of 5-FU: results from genotyping study on 75 gastric carcinoma and colon carcinoma patients. Med Oncol 2007; 24:251-8.

Zhang X, Soong R, Wang K et al. Suppression of DPYD expression in RKO cells via DNA methylation in the regulatory region of the DPYD promoter: a potentially important epigenetic mechanism regulating DPYD expression. Biochem Cell Biol 2007; 85:337-46.

DPYS (dihydropyrimidinase)

Fidlerova J, Kleiblova P, Bilek M et al. Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. Cancer Chemother Pharmacol 2010; 65:661-9.

Furuta J, Nobeyama Y, Umebayashi Y, Otsuka F, Kikuchi K, Ushijima T. Silencing of Peroxiredoxin 2 and aberrant methylation of 33 CpG islands in putative promoter regions in human malignant melanomas. Cancer Res 2006; 66:6080-6.

Hamajima N, Kouwaki M, Vreken P et al. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. Am J Hum Genet 1998; 63:717-26.

Thomas HR, Ezzeldin HH, Guarcello V, Mattison LK, Fridley BL, Diasio RB. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. Pharmacogenet Genomics 2007; 17:973-87.

van Kuilenburg AB, Meijer J, Dobritzsch D et al. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab 2007; 91:157-64.

DRD1 (dopamine receptor D1)

Al-Fulaij MA, Ren Y, Beinborn M, Kopin AS. Pharmacological analysis of human D1 and D2 dopamine receptor missense variants. J Mol Neurosci 2008; 34:211-23.

Allen NC, Bagade S, McQueen MB et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet 2008; 40:827-34.

Batel P, Houchi H, Daoust M, Ramoz N, Naassila M, Gorwood P. A haplotype of the DRD1 gene is associated with alcohol dependence. Alcohol Clin Exp Res 2008; 32:567-72.

Dolzan V, Plesnicar BK, Serretti A et al. Polymorphisms in dopamine receptor DRD1 and DRD2 genes and psychopathological and extrapyramidal symptoms in patients on long-term antipsychotic treatment. Am J Med Genet B Neuropsychiatr Genet 2007; 144:809-15.

Feng J, Sobell JL, Heston LL, Cook EH Jr, Goldman D, Sommer SS. Scanning of the dopamine D1 and D5 receptor genes by REF in neuropsychiatric patients reveals a novel missense change at a highly conserved amino acid. Am J Med Genet 1998; 81:172-8.

Gantois I, Fang K, Jiang L et al. Ablation of D1 dopamine receptor-expressing cells generates mice with seizures, dystonia, hyperactivity, and impaired oral behavior. Proc Natl Acad Sci USA 2007; 104:4182-7.

Huang W, Ma JZ, Payne TJ, Beuten J, Dupont RT, Li MD. Significant association of DRD1 with nicotine dependence. Hum Genet 2008; 123:133-40.

Hwang R, Shinkai T, de Luca V et al. Association study of four dopamine D1 receptor gene polymorphisms and clozapine treatment response. J Psychopharmacol 2007; 21:718-27.

Hwang R, Souza RP, Tiwari AK et al. Gene-gene interaction analyses between NMDA receptor subunit and dopamine receptor gene variants and clozapine response. Pharmacogenomics 2011; 12:277-91.

Lai IC, Mo GH, Chen ML et al. Analysis of genetic variations in the dopamine D1 receptor (DRD1) gene and antipsychotics-induced tardive dyskinesia in schizophrenia. Eur J Clin Pharmacol 2010; 67:383-8.

Liu Q, Sobell JL, Heston LL, Sommer SS. Screening the dopamine D1 receptor gene in 131 schizophrenics and eight alcoholics: identification of polymorphisms but lack of functionally significant sequence changes. Am J Med Genet 1995; 60:165-71.

Misener VL, Luca P, Azeke O et al. Linkage of the dopamine receptor D1 gene to attention-deficit/hyperactivity disorder. Mol Psychiatry 2004; 9:500-9.

Ni X, Trakalo JM, Mundo E et al. Linkage disequilibrium between dopamine D1 receptor gene (DRD1) and bipolar disorder. Biol Psychiatry 2002; 52:1144-50.

Potkin SG, Basile VS, Jin Y et al. D1 receptor alleles predict PET metabolic correlates of clinical response to clozapine. Mol Psychiatry 2003; 8:109-13.

Rybakowski JK, Dmitrzak-Weglarz M, Suwalska A, Leszczynska-Rodziewicz A, Hauser J. Dopamine D1 receptor gene polymorphism is associated with prophylactic lithium response in bipolar disorder. Pharmacopsychiatry 2009; 42:20-2.

DRD2 (dopamine receptor D2)

Aklillu E, Kalow W, Endrenyi L, Harper P, Miura J, Ozdemir V. CYP2D6 and DRD2 genes differentially impact pharmacodynamic sensitivity and time course of prolactin response to perphenazine. Pharmacogenet Genomics 2007; 17:989-93.

Bertolino A, Fazio L, Caforio G et al. Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia. Brain 2009; 132:417-25.

Calarge CA, Ellingrod VL, Acion L et al. Variants of the dopamine D2 receptor gene and risperidone-induced hyperprolactinemia in children and adolescents. Pharmacogenet Genomics 2009; 19:373-82.

Cravchik A, Sibley DR, Gejman PV. Functional analysis of the human D2 dopamine receptor missense variants. J Biol Chem 1996; 271:26013-7.

Crettol S, Besson J, Croquette-Krokar M et al. Association of dopamine and opioid receptor genetic polymorphisms with response to methadone maintenance treatment. Prog Neuropsychopharmacol Biol Psychiatry 2008; 32:1722-7.

Dolzan V, Plesnicar BK, Serretti A et al. Polymorphisms in dopamine receptor DRD1 and DRD2 genes and psychopathological and extrapyramidal symptoms in patients on long-term antipsychotic treatment. Am J Med Genet B Neuropsychiatr Genet 2007; 144:809-15.

Filopanti M, Barbieri AM, Angioni AR et al. Dopamine D2 receptor gene polymorphisms and response to cabergoline therapy in patients with prolactin-secreting pituitary adenomas. Pharmacogenomics J 2008; 8:357-63.

Gupta M, Chauhan C, Bhatnagar P et al. Genetic susceptibility to schizophrenia: role of dopaminergic pathway gene polymorphisms. Pharmacogenomics 2009; 10:277-91.

Hänninen K, Katila H, Kampman O et al. Association between the C957T polymorphism of the dopamine D2 receptor gene and schizophrenia. Neurosci Lett 2006; 407:195-8.

Herzberg I, Valencia-Duarte AV, Kay VA et al. Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate. Psychiatr Genet 2010; 20:179-83.

Hong CJ, Liou YJ, Bai YM, Chen TT, Wang YC, Tsai SJ. Dopamine receptor D2 gene is associated with weight gain in schizophrenic patients under long-term atypical antipsychotic treatment. Pharmacogenet Genomics 2010; 20:359-66.

Hwang R, Shinkai T, de Luca V et al. Association study of 12 polymorphisms spanning the dopamine D(2) receptor gene and clozapine treatment response in two treatment refractory/intolerant populations. Psychopharmacology 2005; 181:179-87.

Kim E, Kwon JS, Shin YW et al. Taq1A polymorphism in the dopamine D2 receptor gene predicts brain metabolic response to aripiprazole in healthy male volunteers. Pharmacogenet Genomics 2008; 18:91-7.

Klein C, Brin MF, Kramer P et al. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci USA 1999; 96:5173-6.

Klein C, Gurvich N, Sena-Esteves M et al. Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Ann Neurol 2000; 47:369-73.

Larson BT, Harmon DL, Piper EL, Griffis LM, Bush LP. Alkaloid binding and activation of D2 dopamine receptors in cell culture. J Anim Sci 1999; 77:942-7.

Leddy JJ, Waxmonsky JG, Salis RJ et al. Dopamine-related genotypes and the dose-response effect of methylphenidate on eating in attention-deficit/hyperactivity disorder youths. J Child Adolesc Psychopharmacol 2009; 19:127-36.

Lerman C, Jepson C, Wileyto EP et al. Role of functional genetic variation in the dopamine D2 receptor (DRD2) in response to bupropion and nicotine replacement therapy for tobacco dependence: results of two randomized clinical trials. Neuropsychopharmacology 2006; 31:231-42.

Liu YZ, Tang BS, Yan XX et al. Association of the DRD2 and DRD3 polymorphisms with response to pramipexole in Parkinson’s disease patients. Eur J Clin Pharmacol 2009; 65:679-83.

Moyer RA, Wang D, Papp AC et al. Intronic polymorphisms affecting alternative splicing of human dopamine d2 receptor are associated with cocaine abuse. Neuropsychopharmacology 2011; 36:753-62.

Noble EP. The D2 dopamine receptor gene: a review of association studies in alcoholism and phenotypes. Alcohol 1998; 16:33-45.

Noble EP. Addiction and its reward process through polymorphisms of the D2 dopamine receptor gene: a review. Eur Psychiatry 2000; 15:79-89.

Pohjalainen T, Rinne JO, Någren K et al. The A1 allele of the human D2 dopamine receptor gene predicts low D2 receptor availability in healthy volunteers. Mol Psychiatry 1998; 3:256-60.

Robinson JD, Lam CY, Minnix JA et al. The DRD2 TaqI-B polymorphism and its relationship to smoking abstinence and withdrawal symptoms. Pharmacogenomics J 2007; 7:266-74.

Saito M, Yasui-Furukori N, Kaneko S. Clinical pharmacogenetics in the treatment of schizophrenia. Nihon Shinkei Seishin Yakurigaku Zasshi 2005; 25:129-35.

Sangrajrang S, Sato Y, Sakamoto H, Ohnami S, Khuhaprema T, Yoshida T. Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women. Breast Cancer Res Treat 2010; 123:885-93.

Schäfer M, Rujescu D, Giegling I et al. Association of short-term response to haloperidol treatment with a polymorphism in the dopamine D(2) receptor gene. Am J Psychiatry 2001; 158:802-4.

Shen YC, Chen SF, Chen CH et al. Effects of DRD2/ANKK1 gene variations and clinical factors on aripiprazole efficacy in schizophrenic patients. J Psychiatr Res 2009; 43:600-6.

Stice E, Spoor S, Bohon C, Small DM. Relation between obesity and blunted striatal response to food is moderated by TaqIA A1 allele. Science 2008; 322:449-52.

Suzuki A, Kondo T, Mihara K et al. The -141C Ins/Del polymorphism in the dopamine D2 receptor gene promoter region is associated with anxiolytic and antidepressive effects during treatment with dopamine antagonists in schizophrenic patients. Pharmacogenetics 2001; 11:545-50.

Thanos PK, Rivera SN, Weaver K et al. Dopamine D2R DNA transfer in dopamine D2 receptor-deficient mice: effects on ethanol drinking. Life Sci 2005; 77:130-9.

Thelma B, Srivastava V, Tiwari AK. Genetic underpinnings of tardive dyskinesia: passing the baton to pharmacogenetics. Pharmacogenomics 2008; 9:1285-306.

Wong AH, Buckle CE, van Tol HH. Polymorphisms in dopamine receptors: what do they tell us? Eur J Pharmacol 2000; 410:183-203.

Wu S, Xing Q, Gao R et al. Response to chlorpromazine treatment may be associated with polymorphisms of the DRD2 gene in Chinese schizophrenic patients. Neurosci Lett 2005; 376:1-4.

Wu SN, Gao R, Xing QH et al. Association of DRD2 polymorphisms and chlorpromazine-induced extrapyramidal syndrome in Chinese schizophrenic patients. Acta Pharmacol Sin 2006; 27:966-70.

Xing Q, Qian X, Li H et al. The relationship between the therapeutic response to risperidone and the dopamine D2 receptor polymorphism in Chinese schizophrenia patients. Int J Neuropsychopharmacol 2007; 10:631-7.

Yamanouchi Y, Iwata N, Suzuki T, Kitajima T, Ikeda M, Ozaki N. Effect of DRD2, 5-HT2A, and COMT genes on antipsychotic response to risperidone. Pharmacogenomics J 2003; 3:356-61.

Zahari Z, Teh LK, Ismail R, Razali SM. Influence of DRD2 polymorphisms on the clinical outcomesofpatients with schizophrenia. Psychiatr Genet 2011; 21:183-9.

Zhang JP, Lencz T, Malhotra AK. D2 receptor genetic variation and clinical response to antipsychotic drug treatment: A Meta-Analysis. Am J Psychiatry 2010; 167:763-72.

Zou YF, Wang F, Feng XL et al. Association of DRD2 gene polymorphisms with mood disorders: A meta-analysis. J Affect Disord 2010. doi:10. 1016/j. jad. 2010. 11. 012.

DRD3 (dopamine receptor D3)

Chen SF, Shen YC, Chen CH. Effects of the DRD3 Ser9Gly polymorphism on aripiprazole efficacy in schizophrenic patients as modified by clinical factors. Prog Neuropsychopharmacol Biol Psychiatry 2009; 33:470-4.

Correia CT, Almeida JP, Santos PE et al. Pharmacogenetics of risperidone therapy in autism: association analysis of eight candidate genes with drug efficacy and adverse drug reactions. Pharmacogenomics J 2010; 10:418-30.

Costas J, Carrera N, Domínguez E et al. A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia. Hum Genet 2009; 124:607-13.

Crocq MA, Mant R, Asherson P et al. Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. J Med Genet 1992; 29:858-60.

Dalley JW, Fryer TD, Brichard L et al. Nucleus accumbens D2/3 receptors predict trait impulsivity and cocaine reinforcement. Science 2007; 315:1267-70.

García-Martín E, Martínez C, Alonso-Navarro H et al. Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor. Mov Disord 2009; 24:1910-5.

Gassó P, Mas S, Bernardo M, Álvarez S, Parellada E, Lafuente A. A common variant in DRD3 gene is associated with risperidone-induced extrapyramidal symptoms. Pharmacogenomics J 2009; 9:404-10.

Holzman PS. Eye movements and the search for the essence of schizophrenia. Brain Res Rev 2000; 31:350-6.

Huang W, Payne TJ, Ma JZ, Li MD. A functional polymorphism, rs6280, in DRD3 is significantly associated with nicotine dependence in European-American smokers. Am J Med Genet B Neuropsychiatr Genet 2008; 147:1109-15.

Hwang R, Souza RP, Tiwari AK et al. Gene-gene interaction analyses between NMDA receptor subunit and dopamine receptor gene variants and clozapine response. Pharmacogenomics 2011; 12:277-91.

Hwang R, Zai C, Tiwari A et al. Effect of dopamine D3 receptor gene polymorphisms and clozapine treatment response: exploratory analysis of nine polymorphisms and meta-analysis of the Ser9Gly variant. Pharmacogenomics J 2010; 10:200-18.

Ilani T, Ben-Shachar D, Strous RD et al. A peripheral marker for schizophrenia: increased levels of D3 dopamine receptor mRNA in blood lymphocytes. Proc Nat Acad Sci USA 2001; 98:625-8.

Jeanneteau F, Funalot B, Jankovic J et al. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. Proc Natl Acad Sci USA 2006; 103:10753-8.

Le Coniat M, Sokoloff P, Hillion J et al. Chromosomal localization of the human D-3 dopamine receptor gene. Hum Genet 1991; 87:18-20.

Le Foll B, Diaz J, Sokoloff P. Neuroadaptations to hyperdopaminergia in dopamine D3 receptor-deficient mice. Life Sci 2005; 76:1281-96.

Lee SY, Chen SL, Chen SH et al. The COMT and DRD3 genes interacted in bipolar I but not bipolar II disorder. World J Biol Psychiatry 2011; 12:385-91.

Liao DL, Yeh YC, Chen HM, Chen H, Hong CJ, Tsai SJ. Association between the Ser9Gly polymorphism of the dopamine D3 receptor gene and tardive dyskinesia in Chinese schizophrenic patients. Neuropsychobiology 2001; 44:95-8.

Liu YZ, Tang BS, Yan XX et al. Association of the DRD2 and DRD3 polymorphisms with response to pramipexole in Parkinson’s disease patients. Eur J Clin Pharmacol 2009; 65:679-83.

Lucotte G, Lagarde JP, Funalot B, Sokoloff P. Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families. Clin Genet 2006; 69:437-40.

Makoff AJ, Graham JM, Arranz MJ et al. Association study of dopamine receptor gene polymorphisms with drug-induced hallucinations in patients with idiopathic Parkinson’s disease. Pharmacogenetics 2000; 10:43-8.

Mierau J, Schneider FJ, Ensinger HA, Chio CL, Lajiness ME, Huff RM. Pramipexole binding and activation of cloned and expressed dopamine D2, D3 and D4 receptors. Eur J Pharmacol 1995; 290:29-36.

Scharfetter J, Chaudhry HR, Hornik K et al. Dopamine D3 receptor gene polymorphism and response to clozapine in schizophrenic Pakastani patients. Eur Neuropsychopharmacol 1999; 10:17-20.

Segman R, Neeman T, Heresco-Levy U et al. Genotypic association between the dopamine D3 receptor and tardive dyskinesia in chronic schizophrenia. Mol Psychiatry 1999; 4:247-53.

Spurlock G, Williams J, McGuffin P et al. European multicentre association study of schizophrenia: a study of the DRD2 ser311-to-cys and DRD3 ser9-to-gly polymorphisms. Am J Med Genet 1998; 81:24-8.

Szekeres G, Kéri S, Juhász A et al. Role of dopamine D3 receptor (DRD3) and dopamine transporter (DAT) polymorphism in cognitive dysfunctions and therapeutic response to atypical antipsychotics in patients with schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2004; 124:1-5.

Utsunomiya K, Shinkai T, de Luca V et al. Genetic association between the dopamine D3 gene polymorphism (Ser9Gly) and schizophrenia in Japanese populations: evidence from a case-control study and meta-analysis. Neurosci Lett 2008; 444:161-5.

DRD4 (dopamine receptor D4)

Benjamin J, Li L, Patterson C, Greenberg BD, Murphy DL, Hamer DH. Population and familial association between the D4 dopamine receptor gene and measures of Novelty Seeking. Nat Genet 1996; 12:81-4.

Chen YL, Cheng TS, Lung FW. Prolactin levels in olanzapine treatment correlate with positive symptoms of schizophrenia: Results from an open-label, flexible-dose study. Prim Care Companion J Clin Psychiatry 2009; 11:16-20.

Ebstein RP, Novick O, Umansky R et al. Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of Novelty Seeking. Nat Genet1996; 12:78-80.

Gizer IR, Ficks C, Waldman ID. Candidate gene studies of ADHD: a meta-analytic review. Hum Genet 2009; 126:51-90.

Hattori E, Nakajima M, Yamada K et al. Variable number of tandem repeat polymorphisms of DRD4: re-evaluation of selection hypothesis and analysis of association with schizophrenia. Eur J Hum Genet 2009; 17:793-801.

Juyal RC, Das M, Punia S et al. Genetic susceptibility to Parkinson’s disease among South and North Indians: I. Role of polymorphisms in dopamine receptor and transporter genes and association of DRD4 120-bp duplication marker. Neurogenetics 2006; 7:223-9.

Kereszturi E, Tarnok Z, Bognar E et al. Catechol-O-methyltransferase Val158Met polymorphism is associated with methylphenidate response in ADHD children. Am J Med Genet B Neuropsychiatr Genet 2008; 147:1431-5.

Lai JH, Zhu YS, Huo ZH et al. Association study of polymorphisms in the promoter region of DRD4 with schizophrenia, depression, and heroin addiction. Brain Res 2010; 1359:227-32.

Leddy JJ, Waxmonsky JG, Salis RJ et al. Dopamine-related genotypes and the dose-response effect of methylphenidate on eating in attention-deficit/hyperactivity disorder youths. J Child Adolesc Psychopharmacol 2009; 19:127-36.

Malhotra AK, Virkkunen M, Rooney W, Eggert M, Linnoila M, Goldman D. The association between the dopamine D4 receptor (D4DR) 16 amino acid repeat polymorphism and novelty seeking. Mol Psychiatry 1996; 1:388-91.

McGough JJ, McCracken JT, Loo SK et al. A candidate gene analysis of methylphenidate response in attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry 2009; 48:1155-64.

Mierau J, Schneider FJ, Ensinger HA, Chio CL, Lajiness ME, Huff RM. Pramipexole binding and activation of cloned and expressed dopamine D2, D3 and D4 receptors. Eur J Pharmacol 1995; 290:29-36.

Nakajima M, Hattori E, Yamada K et al. Association and synergistic interaction between promoter variants of the DRD4 gene in Japanese schizophrenics. J Hum Genet 2007; 52:86-91.

Popp J, Leucht S, Heres S, Steimer W. DRD4 48 bp VNTR but not 5-HT 2C Cys23Ser receptor polymorphism is related to antipsychotic-induced weight gain. Pharmacogenomics J 2009; 9:71-7.

Ricketts MH, Hamer RM, Manowitz P et al. Association of long variants of the dopamine D4 receptor exon 3 repeat polymorphism with Parkinson’s disease. Clin Genet 1998; 54:33-8.

Roussos P, Giakoumaki SG, Bitsios P. Cognitive and emotional processing in high novelty seeking associated with the L-DRD4 genotype. Neuropsychologia 2009; 47:1654-9.

Scharfetter J. Pharmacogenetics of dopamine receptors and response to antipsychotic drugs in schizophrenia-an update. Pharmacogenomics 2004; 5:691-8.

Tarazi FI, Zhang K, Baldessarini RJ. Dopamine D4 receptors: beyond schizophrenia. J Recept Signal Transduct Res 2004; 24:131-47.

Tharoor H, Lobos EA, Todd RD, Reiersen AM. Association of dopamine, serotonin, and nicotinic gene polymorphisms with methylphenidate response in ADHD. Am J Med Genet B Neuropsychiatr Genet 2008; 147:527-30.

Tomitaka M, Tomitaka S, Otuka Y et al. Association between novelty seeking and dopamine receptor D4 (DRD4) exon III polymorphism in Japanese subjects. Am J Med Genet 1999; 88:469-71.

Tsutsumi A, Kanazawa T, Kikuyama H et al. Genetic polymorphisms in dopamine- and serotonin-related genes and treatment responses to risperidone and perospirone. Psychiatry Investig 2009; 6:222-5.

van Tol HH, Wu CM, Guan HC et al. Multiple dopamine D4 receptor variants in the human population. Nature 1992; 358:149-52.

Vandenbergh DJ, O’Connor RJ, Grant MD et al. Dopamine receptor genes (DRD2, DRD3 and DRD4) and gene-gene interactions associated with smoking-related behaviors. Addict Biol 2007; 12:106-16.

Yasui-Furukori N, Saito M, Tsuchimine S et al. Association between dopamine-related polymorphisms and plasma concentrations of prolactin during risperidone treatment in schizophrenic patients. Prog Neuropsychopharmacol Biol Psychiatry 2008; 32:1491-5.

Zai CC, Tiwari AK, Basile V et al. Association study of tardive dyskinesia and five DRD4 polymorphisms in schizophrenia patients. Pharmacogenomics J 2009; 9:168-74.

Zalsman G, Frisch A, Lev-Ran S et al. DRD4 exon III polymorphism and response to risperidone in Israeli adolescents with schizophrenia: a pilot pharmacogenetic study. Eur Neuropsychopharmacol 2003; 13:183-5.

DRD5 (dopamine receptor D5)

Brancati F, Valente EM, Castori M et al. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. J Neurol Neurosurg Psychiatry 2003; 74:665-6.

de Krom M, Staal WG, Ophoff RA et al. A common variant in DRD3 receptor is associated with autism spectrum disorder. Biol Psychiatry 2009; 65:625-30.

Feng J, Sobell JL, Heston LL, Cook EH Jr, Goldman D, Sommer SS. Scanning of the dopamine D1 and D5 receptor genes by REF in neuropsychiatric patients reveals a novel missense change at a highly conserved amino acid. Am J Med Genet 1998; 81:172-8.

Gildea JJ, Wang X, Jose PA, Felder RA. Differential D1 and D5 receptor regulation and degradation of the angiotensin type 1 receptor. Hypertension 2008; 51:360-6.

Grandy DK, Allen LJ, Zhang Y et al. Chromosomal localization of three human D5 dopamine receptor genes. Genomics 1992; 13:968-73.

Johansson S, Halleland H, Halmøy A et al. Genetic analyses of dopamine related genes in adult ADHD patients suggest an association with the DRD5-microsatellite repeat, but not with DRD4 or SLC6A3 VNTRs. Am J Med Genet B Neuropsychiatr Genet 2008; 147:1470-5.

Kalsi G, Sherrington R, Mankoo BS et al. Linkage study of the D5 dopamine receptor gene (DRD5) in multiplex Icelandic and English schizophrenia pedigrees. Am J Psychiatry 1996; 153:107-9.

Lasky-Su J, Biederman J, Laird N et al. Evidence for an association of the dopamine D5 receptor gene on age at onset of attention deficit hyperactivity disorder. Ann Hum Genet 2007; 71:648-59.

Lowe N, Kirley A, Hawi Z et al. Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes. Am J Hum Genet 2004; 74:348-56.

Manor I, Corbex M, Eisenberg J et al. Association of the dopamine D5 receptor with attention deficit hyperactivity disorder (ADHD) and scores on a continuous performance test (TOVA). Am J Med Genet B Neuropsychiatr Genet 2004; 127:73-7.

Misbahuddin A, Placzek MR, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT. A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Neurology 2002; 58:124-6.

Pal P, Mihanović M, Molnar S et al. Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population. Croat Med J 2009; 50:361-9.

Placzek MR, Misbahuddin A, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT. Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene. J Neurol Neurosurg Psychiatry 2001; 71:262-4.

Ravindranathan A, Coon H, DeLisi L et al. Linkage analysis between schizophrenia and a microsatellite polymorphism for the D5 dopamine receptor gene. Psychiatr Genet 1994; 4:77-80.

Sobell JL, Lind TJ, Sigurdson DC et al. The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with disease. Hum Mol Genet 1995; 4:507-14.

Sullivan PF, Neale MC, Silverman MA et al. An association study of DRD5 with smoking initiation and progression to nicotine dependence. Am J Med Genet 2001; 105:259-65.

Talkowski ME, Bamne M, Mansour H, Nimgaonkar VL. Dopamine genes and schizophrenia: case closed or evidence pending? Schizophr Bull 2007; 33:1071-81.

Vanyukov MM, Moss HB, Gioio AE, Hughes HB, Kaplan BB, Tarter RE. An association between a microsatellite polymorphism at the DRD5 gene and the liability to substance abuse: pilot study. Behav Genet 1998; 28:75-82.

Weinshank RL, Adham N, Macchi M, Olsen MA, Branchek TA, Hartig PR. Molecular cloning and characterization of a high affinity dopamine receptor (D1 beta) and its pseudogene. J Biol Chem 1991; 266:22427-35.

DTNBP1 (dystrobrevin binding protein 1)

Allen NC, Bagade S, McQueen MB et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet 2008; 40:827-34.

Arias B, Serretti A, Mandelli L et al. Dysbindin gene (DTNBP1) in major depression: association with clinical response to selective serotonin reuptake inhibitors. Pharmacogenet Genomics 2009; 19:121-8.

Bray NJ, Preece A, Williams NM et al. Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression. Hum Mol Genet 2005; 14:1947-54.

Burdick KE, Goldberg TE, Funke B et al. DTNBP1 genotype influences cognitive decline in schizophrenia. Schizophr Res 2007; 89:169-72.

Datta SR, McQuillin A, Puri V et al. Failure to confirm allelic and haplotypic association between markers at the chromosome 6p22. 3 dystrobrevin-binding protein 1 (DTNBP1) locus and schizophrenia. Behav Brain Funct 2007; 3:50.

Duan J, Martinez M, Sanders AR et al. DTNBP1 (Dystrobrevin binding protein 1) and schizophrenia: ssociation evidence in the 3’ end of the gene. Hum Hered 2007; 64:97-106.

Fanous AH, van den Oord EJ, Riley BP et al. Relationship between a high-risk haplotype in the DTNBP1 (dysbindin) gene and clinical features of schizophrenia. Am J Psychiatry 2005; 162:1824-32.

Funke B, Finn CT, Plocik AM et al. Association of the DTNBP1 locus with schizophrenia in a U. S. population. Am J Hum Genet 2004; 75:891-8.

Gaysina D, Cohen-Woods S, Chow PC et al. Association of the dystrobrevin binding protein 1 gene (DTNBP1) in a bipolar case-control study (BACCS). Am J Med Genet B Neuropsychiatr Genet 2009; 150:836-44.

Guo AY, Sun J, Riley BP, Thiselton DL, Kendler KS, Zhao Z. The dystrobrevin-binding protein 1 gene: features and networks. Mol Psychiatry 2009; 14:18-29.

Hashimoto R, Noguchi H, Hori H et al. Association between the dysbindin gene (DTNBP1) and cognitive functions in Japanese subjects. Psychiatry Clin Neurosci 2009; 63:550-6.

Jentsch JD, Trantham-Davidson H, Jairl C, Tinsley M, Cannon TD, Lavin A. Dysbindin modulates prefrontal cortical glutamatergic circuits and working memory function in mice. Neuropsychopharmacology 2009; 34:2601-8.

Kim JJ, Mandelli L, Pae CU et al. Is there protective haplotype of dysbindin gene (DTNBP1) 3 polymorphisms for major depressive disorder. Prog Neuropsychopharmacol Biol Psychiatry 2008; 32:375-9.

Kircher T, Markov V, Krug A et al. Association of the DTNBP1 genotype with cognition and personality traits in healthy subjects. Psychol Med 2009; 39:1657-65.

Lakhan SE, Vieira KF. Schizophrenia pathophysiology: are we any closer to a complete model? Ann Gen Psychiatry 2009; 8:12.

Li D, He L. Association study between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia: a meta-analysis. Schizophr Res 2007; 96:112-8.

Li W, Zhang Q, Oiso N et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003; 35:84-9.

Markov V, Krug A, Krach S et al. Genetic variation in schizophrenia-risk-gene dysbindin 1 modulates brain activation in anterior cingulate cortex and right temporal gyrus during language production in healthy individuals. Neuroimage 2009; 47:2016-22.

Markov V, Krug A, Krach S et al. Impact of schizophrenia-risk gene dysbindin 1 on brain activation in bilateral middle frontal gyrus during a working memory task in healthy individuals. Hum Brain Mapp 2010; 31:266-75.

Morris DW, Murphy K, Kenny N et al. Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. Biol Psychiatry 2008; 63:24-31.

Mutsuddi M, Morris DW, Waggoner SG, Daly MJ, Scolnick EM, Sklar P. Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia. Am J Hum Genet 2006; 79:903-9.

Pae CU, Mandelli L, de Ronchi D et al. Dysbindin gene (DTNBP1) and schizophrenia in Korean population. Eur Arch Psychiatry Clin Neurosci 2009; 259:137-42.

Pae CU, Serretti A, Mandelli L et al. Dysbindin associated with selective serotonin reuptake inhibitor antidepressant efficacy. Pharmacogenet Genomics 2007; 17:69-75.

Pae CU, Serretti A, Mandelli L et al. Effect of 5-haplotype of dysbindin gene (DTNBP1) polymorphisms for the susceptibility to bipolar I disorder. Am J Med Genet B Neuropsychiatr Genet 2007; 144:701-3.

Schwab SG, Knapp M, Mondabon S et al. Support for association of schizophrenia with genetic variation in the 6p22. 3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families. Am J Hum Genet 2003; 72:185-90.

Shi J, Gershon ES, Liu C. Genetic associations with schizophrenia: meta-analyses of 12 candidate genes. Schizophr Res 2008; 104:96-107.

Straub RE, Jiang Y, MacLean CJ et al. Genetic variation in the 6p22. 3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am J Hum Genet 2002; 71:337-48.

Tang TT, Yang F, Chen BS et al. Dysbindin regulates hippocampal LTP by controlling NMDA receptor surface expression. Proc Natl Acad Sci USA 2009; 106:21395-400.

van den Bogaert A, Schumacher J, Schulze TG et al. The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. Am J Hum Genet 2003; 73:1438-43.

van den Oord EJ, Sullivan PF, Jiang Y et al. Identification of a high-risk haplotype for the dystrobrevin binding protein 1 (DTNBP1) gene in the Irish study of high-density schizophrenia families. Mol Psychiatry 2003; 8:499-510.

Williams NM, O’Donovan MC, Owen MJ. Is the dysbindin gene (DTNBP1) a susceptibility gene for schizophrenia? Schizophr Bull 2005; 31:800-5.

Zinkstok JR, de Wilde O, van Amelsvoort TA, Tanck MW, Baas F, Linszen DH. Association between the DTNBP1 gene and intelligence: a case-control study in young patients with schizophrenia and related disorders and unaffected siblings. Behav Brain Funct 2007; 3:19.

Zuo L, Luo X, Krystal JH, Cramer J, Charney DS, Gelernter J. The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation. Pharmacogenet Genomics 2009; 19:437-46.

 A B C D E F G H I K L M N O P R S T U V W X Z