Association between the COMT locus and obsessive-compulsive disorder in females but not males
Association between the COMT locus and obsessive-compulsive disorder in females but not males
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DOI：
10.1002/ajmg.10040
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发表时间：
2002-01-08
期刊：
影响因子：
--
通讯作者：
Pauls, DL
中科院分区：
文献类型：
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作者：
Alsobrook, JP;Zohar, AH;Pauls, DL
先前报道儿茶酚-O-甲基转移酶基因（COMT）编码区的多态性与强迫症（OCD）相关，特别是在男性先证者中。我们尝试在单倍型相对风险（HRR）和传递不平衡（TDT）分析中使用基于家族的遗传设计来复制先前的发现。使用既定方法对 56 名强迫症先证者及其父母进行 COMT 基因座基因分型。对先证者基因型和对照（亲本非遗传）基因型之间的等位基因和基因型频率的分析未能复制先前发现的性别差异，没有提供总体关联的证据，也没有通过 TDT 检测到连锁。然而，按先证者性别对 COMT 等位基因频率的进一步分析表明，女性先证者中的 COMT 等位基因频率与低活性 COMT 等位基因存在轻度显着相关性 (P = 0.049)，但在男性先证者中则不然。这些发现表明，COMT 可能在病因学上与强迫症相关，其性别特异性与之前的研究结果相反。 (C) 2001 Wiley-Liss, Inc.
A polymorphism in the coding region of catechol-O-methyltransferase gene (COMT) was previously reported to be associated with obsessive-compulsive disorder (OCD), particularly in male probands. We attempted to replicate the previous finding using a family-based genetic design in haplotype relative risk (HRR) and transmission disequilibrium (TDT) analyses. Fifty-six OCD probands and their parents were genotyped for the COMT locus using established methods. Analysis of allele and genotype frequencies between the proband genotypes and the control (parental nontransmitted) genotypes failed to replicate the previous finding of gender divergence, gave no evidence of overall association, nor was linkage detected by TDT. However, further analysis of the COMT allele frequencies by proband gender gave evidence of a mildly significant association with the low-activity COMT allele in female probands (P = 0.049), but not in male probands. These findings indicate that COMT may be etiologically relevant to OCD in a gender-specific manner opposite to that shown in previous studies. (C) 2001 Wiley-Liss, Inc.