Association between a catechol- o-methyltransferase polymorphism and obsessive–compulsive disorder in the Afrikaner population

• Published in: Journal of affective disorders 2001-06, Vol.65 (1), p.61-65
• Main Authors: Niehaus, D.J.H, Kinnear, C.J, Corfield, V.A, du Toit, P.L, van Kradenburg, J, Moolman-Smook, J.C, Weyers, J.B, Potgieter, A, Seedat, S, Emsley, R.A, Knowles, J.A, Brink, P.A, Stein, D.J
• Format: Article
• Language: English
• Subjects: Adult; Adult and adolescent clinical studies; Alleles; Anxiety disorders. Neuroses; Biological and medical sciences; Catechol O-Methyltransferase - genetics; Catechol- O-methyl transferase; Cross-Cultural Comparison; Female; Genetics; Genetics, Population; Genotype; Humans; Male; Medical sciences; Obsessive-Compulsive Disorder - genetics; Obsessive-compulsive disorders; Obsessive–compulsive disorder; Polymorphism, Genetic - genetics; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; South Africa; Tropical medicine
• ISSN: 0165-0327; 1573-2517
• DOI: 10.1016/S0165-0327(00)00246-9

Background: It has been proposed that the catechol-o-methyl transferase gene ( COMT) may play a role in the pathogenesis of obsessive–compulsive disorder (OCD). Whereas studies in a North American population showed that the low activity (L) allele of a functional polymorphism in COMT was associated with OCD in male patients, this result was not supported by studies in a Japanese population. The present association study assessed the risk for OCD conferred by this COMT polymorphism in a geographically different patient group, namely, the relatively genetically homogeneous Afrikaner population of South Africa. Methods: Fifty-four unrelated OCD patients and fifty-four sex-matched controls were recruited from the same Afrikaner community. Patients and controls were phenotyped (DSM-IV) and genotyped for a NlaIII polymorphism with H (high activity) or L (low activity) alleles in the COMT gene. Results: The H/L genotype was significantly more common than expected in the OCD patient group ( P=0.0017). Limitations: Replication studies with related individuals may be useful in discovering factors underpinning the H/L genotype abundance in the Afrikaner population. Conclusions: These results emphasise the need for further studies in genetically homogeneous populations to help define the complex etiology of this disease.