title: Association between a catechol-o-methyltransferase polymorphism and obsessive-compulsive disorder in the Afrikaner population.
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors: Department of Psychiatry, University of Stellenbosch, Tygerberg, South Africa.
authors: D J
authors: DJ
authors: Niehaus
authors: C J
authors: CJ
authors: Kinnear
authors: V A
authors: VA
authors: Corfield
authors: P L
authors: PL
authors: du Toit
authors: J
authors: J
authors: van Kradenburg
authors: J C
authors: JC
authors: Moolman-Smook
authors: J B
authors: JB
authors: Weyers
authors: A
authors: A
authors: Potgieter
authors: S
authors: S
authors: Seedat
authors: R A
authors: RA
authors: Emsley
authors: J A
authors: JA
authors: Knowles
authors: P A
authors: PA
authors: Brink
authors: D J
authors: DJ
authors: Stein
mesh_terms: D000328:Adult; D000483:Alleles; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D003431:Cross-Cultural Comparison; D005260:Female; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D009771:Obsessive-Compulsive Disorder / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D013019:South Africa
chemical_list: D002394:Catechol O-Methyltransferase