Dopamine receptor genetic polymorphisms

Anokhin, A.P., Torodov, A.A., Madden, P.A.F., Grant, J.D., Heath, A.C. Brain event-related potentials, dopamine D2 receptor gene polymorphism, and smoking. Genet. Epidemiol. 17(Suppl. 1) S37, 1999. 

Caporaso N et al. The genetics of smoking the Dopamine receptor (DRD2) and transporter polymorphisms in a smoking cessation study. Proc Am Assoc Cancer Res 1997 38(March 1997) 168. 

By contrast, studies of the dopamine D -like receptors have found evidence for the association of the receptor with disease (66) these studies have been replicated (41,42). From among the multitude of these studies, only selected examples are reviewed here. For example, evidence both for and against the association of the dopamine D -like receptors with schizophrenia has been reported. Polymorphisms of the dopamine receptor, including the third intracellular loop VNTR, alter dopamine receptor expression. In addition to association with schizophrenia (3,67-70), the dopamine polymorphisms have been associated with the genetic basis of the variable efficacy of antipsychotics such as clozapine (or neuromuscular toxicity—tardive dyskinesia) (69,71,72). Similarly, promoter SNPs have been associated with altered clozapine efficacy (67,68,73). 

Smith, Stevens S., Bruce F. O Hara, Antonio M. Persico, David A. Gorelick, David B. Newlin, David Vlahov, Liza Solomon, Roy Pickens, and George R. Uhl. 1992. "Genetic Vulnerability to Drug Abuse The D2 Dopamine Receptor Taq I B1 Restriction Fragment Length Polymorphism Appears More Frequently in Polysubstance Abuse." Archives of General Psychiatry 49 723-27. 

Shaikh S, Collier DA, Sham P, Pilowsky L, Sharma T, Lin LK et al. Analysis of clozapine response and polymorphisms of the dopamine D4 receptor gene (DRD4) in schizophrenic patients. American J ournal of Medical Genetics (Neuropsychiatric Genetics) 1995 60 541-545. 

Hori, H., Ohmori, O., Shinkai, T., Kojima, H., and Nakamura, J. (2001) Association between three functional polymorphisms of dopamine D receptor gene and tardive dyskinesia in schizophrenia. Am. J. Med. Genet. 105, llA-11. ... 

Catalano M, Sciuto G, Di Bella D, Novell E, Nobile M, Bellodi L (1994) Lack of association between obsessive-compulsive disorder and the dopamine D3 receptor gene some preliminary considerations. Am J Med Genet 54 253-255 Cavallini MC, Di Bella D, Pasquale L, Henin M, Bellodi L (1998) 5HT2C CYS23/SER23 polymorphism is not associated with obsessive-compulsive disorder. Psychiatry Res 77 97-104... 

Ebstein, R.P., Novick, O., Umansky, R., Priel, B., Osher, Y., Blaine, D., Bennett, E.R., Nemanov, L., Katz, M., and Belmaker, R.H. (1996) Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of novelty seeking. Nat Genet 12 78-80. 

Hinney, A., Schneider, J., Ziegler, A., Lehmkuhl, G., Poustka, F., Schmidt, M.H., Mayer, H., Siegfried, W., Remschmidt, H., and Hebebrand, J. (1999b) No evidence for involvement of polymorphisms of the dopamine D4 receptor gene in anorexia nervosa, underweight, and obesity. Am J Med Genet, 88 594-597. 

Ebstein, Richard P., Olga Novick, Roberto Umansky, Beatrice Priel, Yamina Osher, Damen Blaine, Estelle R. Bennett, Lubov Nemanov, Miri Katz, and Robert H. Belmaker. 1996. "Dopamine D4 Receptor (D4DR) Exon III Polymorphism Associated with the Human Personality Trait of Novelty Seeking." Nature Genetics 12 78-80. 

Lannfelt, Lars, Pierre Sokoloff, Marie-Pascale Martres, Catherine Pilon, Bruno Giros, Erik Jonsson, Gran Sedvall, and Jean-Charles Schwartz. 1992. "Amino Acid Substitution in the Dopamine D3 Receptor as a Useful Polymorphism for Investigating Psychiatric Disorders." Psychiatric Genetics 2 249-56. 

Arinami T, Gao M, Hamaguchi H, Torn M (1997) A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum Mol Genet 6 577-582... 

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