Association between a catechol-o-methyltransferase polymorphism and obsessive-compulsive disorder in the Afrikaner population. Niehaus, D. J., 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. Journal of Affective Disorders, 65(1):61–65, June, 2001. 00063
abstract   bibtex   
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.
@article{niehaus_association_2001,
	title = {Association between a catechol-o-methyltransferase polymorphism and obsessive-compulsive disorder in the {Afrikaner} population},
	volume = {65},
	issn = {0165-0327},
	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).
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.},
	language = {eng},
	number = {1},
	journal = {Journal of Affective Disorders},
	author = {Niehaus, D. J. and Kinnear, C. J. and Corfield, V. A. and du Toit, P. L. and van Kradenburg, J. and Moolman-Smook, J. C. and Weyers, J. B. and Potgieter, A. and Seedat, S. and Emsley, R. A. and Knowles, J. A. and Brink, P. A. and Stein, D. J.},
	month = jun,
	year = {2001},
	pmid = {11426511},
	note = {00063 },
	keywords = {Adult, Alleles, Catechol O-Methyltransferase, Cross-Cultural Comparison, Female, Genetics, Population, Genotype, Humans, Male, Obsessive-Compulsive Disorder, Polymorphism, Genetic, South Africa},
	pages = {61--65},
}

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