基因型决定低儿茶酚-O-甲基转移酶活性作为强迫症的一个风险因素。
Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder.
作者信息
Karayiorgou M, Altemus M, Galke B L, Goldman D, Murphy D L, Ott J, Gogos J A
机构信息
The Rockefeller University, New York, NY 10021, USA.
出版信息
Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4572-5. doi: 10.1073/pnas.94.9.4572.
Abstract
In the present study, we address the role of the gene for catechol-O-methyltransferase (COMT), a key modulator of dopaminergic and noradrenergic neurotransmission, in the genetic predisposition to obsessive-compulsive disorder (OCD). We show that a common functional allele of this gene, which results in a 3- to 4-fold reduction in enzyme activity, is significantly associated in a recessive manner with susceptibility to OCD, particularly in males. This association is further supported by psychiatric evaluation of patients who carry microdeletions encompassing the comt gene. The mechanism underlying this sex-selective association remains to be defined and may include a sexual dimorphism in COMT activity, although close linkage with a nearby disease susceptibility locus cannot be excluded at this point.
摘要
在本研究中，我们探讨了儿茶酚-O-甲基转移酶（COMT）基因在强迫症（OCD）遗传易感性中的作用，COMT是多巴胺能和去甲肾上腺素能神经传递的关键调节因子。我们发现，该基因的一个常见功能等位基因会导致酶活性降低3至4倍，该等位基因以隐性方式与OCD易感性显著相关，尤其是在男性中。携带包含COMT基因的微缺失的患者的精神病学评估进一步支持了这种关联。这种性别选择性关联的潜在机制尚待确定，可能包括COMT活性的性别二态性，尽管目前不能排除与附近疾病易感位点的紧密连锁。
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