Do common variants play a role in risk for autism? Evidence and theoretical musings

被引：65

作者：

Devlin, Bernie ^{[1
]}

Melhem, Nadine ^{[1
]}

Roeder, Kathryn ^{[2
]}

机构：

[1] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA

[2] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA

来源：

BRAIN RESEARCH | 2011年 / 1380卷

关键词：

Minor allele frequency; Distribution; Confidence interval; Psychiatric disorder; GENOME-WIDE ASSOCIATION; COPY NUMBER VARIATION; SPECTRUM; REVEALS; 16P11.2; LINKAGE; SCAN;

D O I：

10.1016/j.brainres.2010.11.026

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Both rare and common genetic variants underlie risk for almost any complex disease. Over the past few years a common tool for identifying common risk variants is genome-wide association or GWA. Our analyses focus on results from GWA targeting common variants affecting risk for autism spectrum disorders (ASD). Thus far three large GWA studies have been published, each of which highlights a single, non-overlapping risk locus. Evaluation of these studies suggests that combination of their data would diminish evidence for all of these loci, making none of them significant. Despite this paucity of findings, statistical theory can be used to infer a plausible distribution of effect sizes for SNPs affecting risk for ASD. We lay out this theory, calculate plausible distributions, and discuss the results in the context of results from GWA studies for schizophrenia. (C) 2010 Published by Elsevier B.V.

引用

页码：78 / 84

页数：7

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