Investigating the role of the brain-derived neurotrophic factor (BDNF) val66met variant in obsessive-compulsive disorder (OCD). Hemmings, S. M. J., Kinnear, C. J., Van der Merwe, L., Lochner, C., Corfield, V. A., Moolman-Smook, J. C., & Stein, D. J. The World Journal of Biological Psychiatry: The Official Journal of the World Federation of Societies of Biological Psychiatry, 9(2):126–134, 2008. 00061
doi  abstract   bibtex   
Although evidence from family studies suggest that genetic factors play an important role in mediating obsessive-compulsive disorder (OCD), results from genetic case-control association analyses have been inconsistent. Discrepant findings may be attributed to the lack of phenotypic resolution, and population stratification. The aim of the present study was to investigate the role that the val66met variant within the gene encoding brain-derived neurotrophic factor (BDNF) may play in mediating the development of selected OCD subtypes accounting for the aforementioned confounding factors. One hundred and twelve OCD subjects and 140 controls were selected from the South African Afrikaner population. A significant association was observed in the male subgroup, with the met66 allele implicated as the risk allele in the development of OCD. This allele was also found to be associated with an earlier age at onset of OCD in males. On the other hand, the val66val genotype was associated with more severe OCD in the female population. No evidence of population stratification was observed in Afrikaner control subjects. These preliminary results point towards genetically distinct characteristics of OCD mediated by dysfunctions in BDNF. The present investigation forms part of ongoing research to elucidate the genetic components involved in the aetiology of OCD and OCD-related characteristics.
@article{hemmings_investigating_2008,
	title = {Investigating the role of the brain-derived neurotrophic factor ({BDNF}) val66met variant in obsessive-compulsive disorder ({OCD})},
	volume = {9},
	issn = {1562-2975},
	doi = {10.1080/15622970701245003},
	abstract = {Although evidence from family studies suggest that genetic factors play an important role in mediating obsessive-compulsive disorder (OCD), results from genetic case-control association analyses have been inconsistent. Discrepant findings may be attributed to the lack of phenotypic resolution, and population stratification. The aim of the present study was to investigate the role that the val66met variant within the gene encoding brain-derived neurotrophic factor (BDNF) may play in mediating the development of selected OCD subtypes accounting for the aforementioned confounding factors. One hundred and twelve OCD subjects and 140 controls were selected from the South African Afrikaner population. A significant association was observed in the male subgroup, with the met66 allele implicated as the risk allele in the development of OCD. This allele was also found to be associated with an earlier age at onset of OCD in males. On the other hand, the val66val genotype was associated with more severe OCD in the female population. No evidence of population stratification was observed in Afrikaner control subjects. These preliminary results point towards genetically distinct characteristics of OCD mediated by dysfunctions in BDNF. The present investigation forms part of ongoing research to elucidate the genetic components involved in the aetiology of OCD and OCD-related characteristics.},
	language = {eng},
	number = {2},
	journal = {The World Journal of Biological Psychiatry: The Official Journal of the World Federation of Societies of Biological Psychiatry},
	author = {Hemmings, Sîan M. J. and Kinnear, Craig J. and Van der Merwe, Lize and Lochner, Christine and Corfield, Valerie A. and Moolman-Smook, Johanna C. and Stein, Dan J.},
	year = {2008},
	pmid = {17853300},
	note = {00061 },
	keywords = {Adult, Brain-Derived Neurotrophic Factor, Chromosome Aberrations, Female, Genetic Markers, Genetic Variation, Genotype, Humans, Male, Obsessive-Compulsive Disorder, Population Surveillance, Questionnaires, South Africa},
	pages = {126--134},
}

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