Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia
Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia
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DOI：
10.1038/sj.mp.4001606
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发表时间：
2005-06-01
影响因子：
11
通讯作者：
Mowry, BJ
中科院分区：
文献类型：
--
作者：
Handoko, HY;Nyholt, DR;Mowry, BJ
一些证据表明儿茶酚-O-甲基转移酶(COMT)基因是精神分裂症(SZ)易感性的候选基因，这不仅是因为它编码一种关键的多巴胺分解代谢酶，还因为它映射到染色体22q11的瓣膜-面部综合征区域，该区域长期以来一直与SZ易感性有关。对COMT作为候选SZ危险因素的兴趣导致了许多病例对照和基于家庭的研究，大多数研究侧重于检查该酶中的Val/Met功能多态性。不幸的是，这些研究不断产生相互矛盾的结果。为了评估其他COMT变异对SZ易感性的遗传贡献，我们研究了除Val/Met变异(Rs4680)外的三个单核苷酸多态(SNPs)(rs737865、rs4633、rs165599)，该样本包含107名SZ患者。Val/Met和rs4633变异与SZ显著相关(P
Several lines of evidence have implicated the catechol-O-methyltransferase ( COMT) gene as a candidate for schizophrenia (SZ) susceptibility, not only because it encodes a key dopamine catabolic enzyme but also because it maps to the velocardiofacial syndrome region of chromosome 22q11 which has long been associated with SZ predisposition. The interest in COMT as a candidate SZ risk factor has led to numerous case - control and family-based studies, with the majority placing emphasis on examining a functional Val/Met polymorphism within this enzyme. Unfortunately, these studies have continually produced conflicting results. To assess the genetic contribution of other COMT variants to SZ susceptibility, we investigated three single-nucleotide polymorphisms ( SNPs) (rs737865, rs4633, rs165599) in addition to the Val/Met variant ( rs4680) in a highly selected sample of Australian Caucasian families containing 107 patients with SZ. The Val/Met and rs4633 variants showed nominally significant associations with SZ (P