Obsessive–compulsive disorder and a novel polymorphism adjacent to the oestrogen response element (ERE 6) upstream from the COMT gene
2001; Lippincott Williams & Wilkins; Volume: 11; Issue: 2 Linguagem: Inglês
10.1097/00041444-200106000-00005
ISSN1473-5873
AutoresCraig Kinnear, Dana Niehaus, Soraya Seedat, Johanna C. Moolman‐Smook, Valerie A. Corfield, G. P. Malherbe, A. Potgieter, Christine Lombard, Dan J. Stein,
Tópico(s)Autism Spectrum Disorder Research
ResumoFamily and twin studies have consistently provided evidence for involvement of genetic mechanisms in obsessive–compulsive disorder (OCD). This has given rise to association studies involving several candidate genes in an endeavour to identify susceptibility factors. One of the more promising candidate genes appears to be the catecol-O -methyltransferase (COMT) gene. Recent association studies in North American and Afrikaner populations have reported a likely association between a functional polymorphism of COMT (linked with COMT enzyme activity levels) and OCD. COMT expression has been demonstrated to be regulated by oestrogen through the oestrogen-response elements (EREs) in the promoter region of the gene. In the light of this association, the authors tested for an association between a novel polymorphism (C→T transition) adjacent to ERE 6 in the promoter area of COMT and OCD in 48 Afrikaners and 48 ethnically matched controls. The C→T transition was not significantly associated with OCD (P = 0.93) or gender (P = 0.67). These findings, although limited by a small sample size, suggest that the novel polymorphism adjacent to ERE 6 in the promoter area of COMT does not play a major role in the genetic predisposition to OCD.
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