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精神分裂症的基因:终于有突破了吗?

The genes for schizophrenia: finally a breakthrough?

作者信息

Shirts Brian H, Nimgaonkar Vishwajit

机构信息

Western Psychiatric Institute and Clinic, Room 443, 3811 O"Hara Street, Pittsburgh, PA 15213, USA.

出版信息

Curr Psychiatry Rep. 2004 Aug;6(4):303-12. doi: 10.1007/s11920-004-0081-1.

Abstract

A number of susceptibility genes for schizophrenia have recently been identified. They have engendered excitement because replicate studies have attained greater consistency than in the past. In this review, we outline gene mapping methods, and briefly review their strengths and challenges. We also evaluate peer-reviewed genetic association studies that have implicated six selected genes: catechol-O-methyl transferase (COMT), neuregulin 1 (NRG1), dysbindin (DTNBP1), regulator of G-protein signaling 4 (RGS4), and G72 and D-amino-acid oxidase (DAAO). The available supporting evidence is variable. Though credible evidence is available for all of these genes, it is strongest for NRG1 and DTNBP1. Further studies, particularly exhaustive analyses of all polymorphisms at each locus, meta-analyses, and investigations of the likely function of risk alleles (variants) are desirable.

摘要

最近已鉴定出一些精神分裂症的易感基因。它们引发了人们的兴奋,因为重复研究比过去获得了更高的一致性。在本综述中,我们概述了基因定位方法,并简要回顾了它们的优势和挑战。我们还评估了经过同行评审的基因关联研究,这些研究涉及六个选定的基因:儿茶酚-O-甲基转移酶(COMT)、神经调节蛋白1(NRG1)、失调素(DTNBP1)、G蛋白信号调节因子4(RGS4)以及G72和D-氨基酸氧化酶(DAAO)。现有的支持证据各不相同。尽管所有这些基因都有可靠的证据,但对NRG1和DTNBP1的证据最为有力。需要进一步的研究,特别是对每个基因座的所有多态性进行详尽分析、荟萃分析以及对风险等位基因(变体)可能功能的研究。

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