Genetic correlates in trichotillomania–A case-control association study in the South African Caucasian population. Hemmings, S. M. J., Kinnear, C. J., Lochner, C., Seedat, S., Corfield, V. A., Moolman-Smook, J. C., & Stein, D. J. The Israel Journal of Psychiatry and Related Sciences, 43(2):93–101, 2006. 00040
abstract   bibtex   
BACKGROUND: Trichotillomania (TTM), a prevalent and disabling psychiatric disorder characterized by repetitive hair-pulling, is presently classified as an impulse control disorder (ICD). Some have argued, however, that TTM is an obsessive-compulsive spectrum disorder (OCSD). There is some evidence that both disorders (OCD and TTM) are mediated by serotonergic (5-HT) and dopaminergic pathways. METHODS: The aim of the present investigation was to assess the role of candidate genes encoding components within the 5-HT and dopaminergic neurotransmitter pathways in mediating TTM. South African Caucasian TTM subjects (n=39), OCD (n=250) and control subjects (n=152) were genotyped for variants in 5-HT and dopaminergic candidate genes. RESULTS: Both genotypic and allelic distributions of the 5-HT receptor 2A (5-HT2A) T102C variant were found to be significantly different between the TTM and control subjects (p=0.028 and p=0.024, respectively), and a trend towards significance was noted between the TTM and OCD subjects (p=0.084 and p=0.080 for genotype and allele analyses, respectively), with the T102T-genotype found to confer susceptibility to the development of TTM. CONCLUSION: This investigation provides preliminary evidence for the involvement of 5-HT2A in the molecular aetiology of TTM and supports the need for further replication in a larger dataset. The present data are consistent with previous findings that 5-HT2A plays a role in mediating impulse dyscontrol.
@article{hemmings_genetic_2006,
	title = {Genetic correlates in trichotillomania--{A} case-control association study in the {South} {African} {Caucasian} population},
	volume = {43},
	issn = {0333-7308},
	abstract = {BACKGROUND: Trichotillomania (TTM), a prevalent and disabling psychiatric disorder characterized by repetitive hair-pulling, is presently classified as an impulse control disorder (ICD). Some have argued, however, that TTM is an obsessive-compulsive spectrum disorder (OCSD). There is some evidence that both disorders (OCD and TTM) are mediated by serotonergic (5-HT) and dopaminergic pathways.
METHODS: The aim of the present investigation was to assess the role of candidate genes encoding components within the 5-HT and dopaminergic neurotransmitter pathways in mediating TTM. South African Caucasian TTM subjects (n=39), OCD (n=250) and control subjects (n=152) were genotyped for variants in 5-HT and dopaminergic candidate genes.
RESULTS: Both genotypic and allelic distributions of the 5-HT receptor 2A (5-HT2A) T102C variant were found to be significantly different between the TTM and control subjects (p=0.028 and p=0.024, respectively), and a trend towards significance was noted between the TTM and OCD subjects (p=0.084 and p=0.080 for genotype and allele analyses, respectively), with the T102T-genotype found to confer susceptibility to the development of TTM.
CONCLUSION: This investigation provides preliminary evidence for the involvement of 5-HT2A in the molecular aetiology of TTM and supports the need for further replication in a larger dataset. The present data are consistent with previous findings that 5-HT2A plays a role in mediating impulse dyscontrol.},
	language = {eng},
	number = {2},
	journal = {The Israel Journal of Psychiatry and Related Sciences},
	author = {Hemmings, Sîan M. J. and Kinnear, Craig J. and Lochner, Christine and Seedat, Soraya and Corfield, Valerie A. and Moolman-Smook, Johanna C. and Stein, Dan J.},
	year = {2006},
	pmid = {16910371},
	note = {00040 },
	keywords = {Alleles, Calcium-Binding Proteins, Case-Control Studies, Dopamine, European Continental Ancestry Group, Genotype, Glycoproteins, Humans, Neural Pathways, Obsessive-Compulsive Disorder, Polymorphism, Genetic, Serotonin, South Africa, Trichotillomania},
	pages = {93--101},
}

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