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首页> 外文期刊>European psychiatry: the journal of the Association of European Psychiatrists >HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association
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HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association

机译：HapMap标签-SNP分析证实了COMT在精神分裂症风险中的作用并揭示了一种新型关联

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摘要

Catechol-O-methyl transferase (COMT) encodes an enzyme involved in the metabolism of dopamine and maps to a commonly deleted region that increases schizophrenia risk. A non-synonymous polymorphism (rs4680) in . COMT has been previously found to be associated with schizophrenia and results in altered activity levels of . COMT. Using a haplotype block-based gene-tagging approach we conducted an association study of seven . COMT single nucleotide polymorphisms (SNPs) in 160 patients with a DSM-IV diagnosis of schizophrenia and 250 controls in an Australian population. Two polymorphisms including rs4680 and rs165774 were found to be significantly associated with schizophrenia. The rs4680 results in a Val/Met substitution but the strongest association was shown by the novel SNP, rs165774, which may still be functional even though it is located in intron five. Individuals with schizophrenia were more than twice as likely to carry the GG genotype compared to the AA genotype for both the rs165774 and rs4680 SNPs. This association was slightly improved when males were analysed separately possibly indicating a degree of sexual dimorphism. Our results confirm that . COMT is a good candidate for schizophrenia risk, by replicating the association with rs4680 and identifying a novel SNP association.
机译：儿茶酚-O-甲基转移酶（COMT）编码一种参与多巴胺代谢的酶，并定位到一个常见的缺失区域，该区域会增加精神分裂症的风险。中的非同义多态性（rs4680）。以前已经发现COMT与精神分裂症有关，并且导致了精神分裂症的活动水平的改变。 COMT。使用基于单体型模块的基因标记方法，我们进行了七个关联研究。在澳大利亚人群中，有160例DSM-IV诊断为精神分裂症的患者和250例对照的COMT单核苷酸多态性（SNP）。发现包括rs4680和rs165774的两个多态性与精神分裂症显着相关。 rs4680导致Val / Met取代，但新的SNP rs165774显示出最强的关联，即使它位于内含子5中也可能仍然起作用。 rs165774和rs4680 SNP的精神分裂症患者携带GG基因型的可能性是AA基因型的两倍。当分别分析男性时，这种关联性得到了稍微改善，这可能表明存在某种程度的两性性。我们的结果证实了这一点。通过复制与rs4680的关联并鉴定新的SNP关联，COMT是精神分裂症风险的良好候选者。

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