The genetics of obsessive-compulsive disorder - Current Psychiatry Reports
- ️Pato, Carlos N.
- ️Sun Apr 01 2001
Rasmussen S, Tsuang M: Clinical characteristics and family history in DSM-III obsessive-compulsive disorder. Am J Psychiatry 1986, 143:317–322.
Carey G, Gottesman II: Twin and family studies of anxiety, phobic, and obsessive disorders. In Anxiety: New Research and Changing Concepts. Edited by Klein DF, Rabkin JG. New York: Raven Press; 1981:117–136.
Nestadt G, Samuels J, Riddle M, et al.: A family study of obsessive-compulsive disorder. Arch Gen Psychiatry 2000, 57:358–363.
Pauls DL, Alsobrook JP, Phil M, et al.: A family study of obsessive-compulsive disorder. Am J Psychiatry 1995, 152:76–84.
Black DW, Noyes Jr R, Goldstein RB, Blum N: A family study of obsessive-compulsive disorder. Arch Gen Psychiatry 1992, 49:362–368.
Bellodi L, Sciuto G, Diaferia G, et al.: Psychiatric disorders in the families of patients with obsessive-compulsive disorder. Psychiatry Res 1992, 42:111–120.
Lenane MC, Swedo SE, Leonard H, et al.: Psychiatric disorders in first-degree relatives of children and adolescents with obsessive-compulsive disorder. J Am Acad Child Adolesc Psychiatry 1990, 3:407–412.
Nicolini H, Hanna G, Baxter L, et al.: Segregation analysis of obsessive-compulsive and associated disorders: preliminary results. Ursus Med J 1991, 1:25–28.
Cavallini MC, Pasquale L, Bellodi L, Smeraldi E: Complex segregation analysis for obsessive compulsive disorder and related disorders. Am J Med Genet 1999, 88:38–43.
Alsobrook II JP, Leckman JF, Goodman WK, Rasmussen SA, Pauls DL: Segregation analysis of obsessive-compulsive disorder using symptom-based factor scores. Am J Med Genet 1999, 88:669–675.
Leckman JF, Grice DE, Boardman J, et al.: Symptoms of obsessive-compulsive disorder. Am J Psychiatry 1997, 154:911–917.
Kruglyak L, Lander E: Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet 1995, 57:439–454.
Weissbecker KA, Baxter L, Schwartz J, et al.: Linkage analysis of obsessive-compulsive disorder. Cytogenet Cell Genet 1989, 51:1105.
Brett PM, Curtis D, Robertson MM, Gurling HM: Exclusion of the 5-HT1A serotonin neuroreceptor and tryptophan oxygenase genes in a large British kindred multiply affected with Tourette’s syndrome, chronic motor tics, and obsessivecompulsive disorder. Am J Psychiatry 1995, 152:437–440.
Falk CT, Rubinstein P: Haplotype relative risk: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 1987, 51:227–233.
Spielman RS, McGinnis RE, Ewens WJ: Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus. Am J Hum Genet 1993, 52:506–516.
McDougle CJ, Epperson CN, Price LH, Gelernter J: Evidence for linkage disequilibrium between serotonin transporter protein gene (SLC6A4) and obsessive compulsive disorder. Mol Psychiatry 1998, 3:270–273. The authors were the first to detect an association between the serotonin transporter protein promoter polymorphism and OCD using a family-based study design. This finding has since been replicated in a follow-up study.
Bengel D, Greenberg BD, Cora-Locatelli G, et al.: Association of the serotonin transporter promoter regulatory region polymorphism and obsessive compulsive disorder. Mol Psychiatry 1999, 4:463–466. The authors use a case-control study design to confirm the previous association reported between the promoter polymorphism of the serotonin transporter gene and OCD.
Billett EA, Richter MA, King N, et al.: Obsessive compulsive disorder, response to serotonin reuptake inhibitors and the serotonin transporter gene. Mol Psychiatry 1997, 2:403–406.
Ohara K, Nagai M, Suzuki Y, et al.: Association between anxiety disorders and a functional polymorphism in the serotonin transporter gene. Psychiatry Res 1998, 81:277–279.
Gross R, Sasson Y, Chopra M, Zohar J: Biological models of obsessive-compulsive disorder: the serotonin hypothesis. In Obsessive-Compulsive Disorder: Theory, Research, and Treatment. Edited by Swinson RP, Antony MM, Rachman S, Richter MA. New York: Guilford; 1998:147–148.
Mundo E, Richter MA, Sam F, et al.: Is the 5-HT(1Dbeta) receptor gene implicated in the pathogenesis of obsessivecompulsive disorder? Am J Psychiatry 2000, 157:1160–1161. The authors have identified an association between the 5-HT1DB gene and OCD using a TDT analysis. Because it is the first such report of association with this gene and OCD, this paper will encourage further analysis of this gene in larger and independent samples.
Enoch MA, Kaye WH, Rotondo A, et al.: 5-HT2A promoter polymorphism -1438G/A, anorexia nervosa, and obsessivecompulsive disorder. Lancet 1998, 351:1785–1786. Enoch et al. reported evidence for association between OCD and a polymorphism in the promoter region of the 5-HT2A receptor gene using a case-control study design. Because it was the first report of an association with this polymorphism, these findings encourage replication in independent and larger samples.
Han L, Nielsen DA, Rosenthal NE, et al.: No coding variant of the tryptophan hydroxylase gene detected in seasonal affective disorder, obsessive-compulsive disorder, anorexia nervosa, and alcoholism. Biol Psychiatry 1999, 45:615–619.
Frisch A, Michaelovsky E, Rockah R, et al.: Association between obsessive-compulsive disorder and polymorphism of genes encoding components of the serotonergic and dopaminergic pathways. Eur Neuropsychopharmacol 2000, 10:205–209.
Nicolini H, Cruz C, Camarena B, et al.: DRD2, DRD3, and 5HT2A receptor genes polymorphisms in obsessivecompulsive disorder. Mol Psychiatry 1996, 1:461–465.
Cavallini MC, Di Bella D, Pasquale L, et al.: 5HT2C cys23/ser23 polymorphism is not associated with obsessive-compulsive disorder. Psychiatry Res 1998, 77:97–104.
Lowe TL, Cohen DJ, Detlor J, et al.: Stimulant medications precipitate Tourette’s syndrome. J Am Med Assoc 1982, 247:1729–1731.
Shapiro AK, Shapiro E, Eisenkraft GJ: Treatment of Gilles de la Tourette syndrome with pimozide. Am J Psychiatry 1983, 140:1183–1186.
Cruz C, Camarena B, King N, et al.: Increased prevalence of the seven-repeat variant of the dopamine D4 receptor gene in patients with obsessive-compulsive disorder with tics. Neuroscience Lett 1997, 231:1–4.
Billett EA, Richter MA, Sam F, et al.: Investigation of dopamine system genes in obsessive-compulsive disorder. Psychiatric Genet 1998, 8:163–169. Billet et al. have identified some evidence for association between OCD and alleles of the 48-bp VNTR polymorphism of exon 3 of the dopamine-4 receptor gene. These findings warrant further exploration in independent samples, as well as in family-based studies.
Novelli E, Nobile M, Diaferia G, et al.: A molecular investigation suggests no relationship between obsessive-compulsive disorder and the dopamine D2 receptor. Neuropsychobiology 1994, 29:61–63.
Catalano M, Sciuto G, Di Bella D, et al.: Lack of association between obsessive-compulsive disorder and the dopamine D3 receptor gene: some preliminary considerations. Am J Med Genet 1994, 54:253–255.
Lachman HM, Papolos DF, Saito T, et al.: Human catechol-Omethyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 1996, 6:243–250.
Karayiorgou M, Altemus M, Galke BL, et al.: Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proc Natl Acad Sci U S A 1997, 94:4572–4575. Karayiorgou et al. were the first to detect an association between the COMT Val-158-Met polymorphism and OCD using a case-control study design. This initial study has created a great deal of interest in the enzyme gene and has since been replicated.
Karayiorgou M, Sobin C, Blundell ML, et al.: Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessivecompulsive disorder. Biol Psychiatry 1999, 45:1178–1189. The authors used a family based study design in order to repeat the association analysis of the COMT gene polymorphism and OCD. This paper confirmed the finding of association detected in the previous study (Karayiorgou et al. [35]) but instead by using a family-based design to better support the finding.
Schindler KM, Richter MA, Kennedy JL, et al.: Association between homozygosity at the COMT gene locus and obsessive compulsive disorder. Am J Med Genet 2000, 96:721–729. Schindler et al. attempted to replicate the findings of association at the COMT locus with OCD. Although the original findings were not replicated, evidence for association was reported for homozygosity at the locus and OCD and thus, further supports the interest for the COMT gene in OCD.
Freedman R, Adler LE, Leonard S: Alternative phenotypes for the complex genetics of schizophrenia. Biol Psychiatry 1999, 45:551–558.