Brain expression quantitative trait locus mapping informs genetic studies of psychiatric diseases.
Brain expression quantitative trait locus mapping informs genetic studies of psychiatric diseases.
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DOI：
10.1007/s12264-011-1203-5
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发表时间：
2011-04
影响因子：
5.6
通讯作者：
Liu, Chunyu
中科院分区：
文献类型：
--
作者：
Liu, Chunyu
关键词：
全基因组关联研究（GWAS）已被用于识别增加精神疾病风险的基因。然而，许多疾病风险的变化仍然无法解释，这表明仍有基因有待发现。遗传变异的功能注释可以通过提供可用于贝叶斯分析或减少测试次数的先验信息来增加GWAS识别疾病基因的能力。表达数量性状基因座（eQTL）的遗传作图正在帮助我们揭示数千种单核苷酸多态性（SNP）的新功能效应。本文综述了已发表的脑eQTL研究，并讨论了主要的方法学问题及其可能的解决方案。我们强调了经常被忽视的批量效应、协变量和多重检验问题，所有这些问题都可能导致假阳性和假阴性。eQTL数据的GWAS分析的未来应用进行了讨论。
Genome-wide association studies (GWASs) have been used to identify genes that increase risk of psychiatric diseases. However, much of the variation in disease risk is still unexplained, suggesting that there are genes still to be discovered. Functional annotation of genetic variants may increase the power of GWASs to identify disease genes by providing prior information that can be used in Bayesian analysis or in reducing the number of tests. Genetic mapping of expression quantitative trait loci (eQTLs) is helping us to reveal novel functional effects of thousands of single nucleotide polymorphisms (SNPs). The published brain eQTL studies are reviewed here, and major methodological issues and their possible solutions are discussed. We emphasize the frequently-ignored problems of batch effects, covariates, and multiple testing, all of which can lead to false positives and false negatives. The future application of eQTL data to the GWAS analysis is also discussed.
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