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

TY - JOUR

T1 - Association between a catechol-o-methyltransferase polymorphism and obsessive-compulsive disorder in the Afrikaner population

AU - Niehaus, D. J.H.

AU - Kinnear, C. J.

AU - Corfield, V. A.

AU - Du Toit, P. L.

AU - Van Kradenburg, J.

AU - Moolman-Smook, J. C.

AU - Weyers, J. B.

AU - Potgieter, A.

AU - Seedat, S.

AU - Emsley, R. A.

AU - Knowles, J. A.

AU - Brink, P. A.

AU - Stein, D. J.

N1 - Funding Information: Drs. Stein and Knowles are supported by a grant from the Obsessive–Compulsive Foundation. Dr. Niehaus is supported by the MRC Unit on Anxiety Disorders (South Africa) and Mr. Kinnear is supported by the National Research Foundation (South Africa).

PY - 2001

Y1 - 2001

N2 - 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.

AB - 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.

KW - Catechol-O-methyl transferase

KW - Genetics

KW - Obsessive-compulsive disorder

UR - https://www.scopus.com/pages/publications/0035023438

UR - https://www.scopus.com/pages/publications/0035023438#tab=citedBy

U2 - 10.1016/S0165-0327(00)00246-9

DO - 10.1016/S0165-0327(00)00246-9

M3 - Article

C2 - 11426511

SN - 0165-0327

VL - 65

SP - 61

EP - 65

JO - Journal of Affective Disorders

JF - Journal of Affective Disorders

IS - 1

ER -