Evidence for sex-specific risk alleles in autism spectrum disorder

被引：128

作者：

Stone, JL

Merriman, B

Cantor, RM

Yonan, AL

Gilliam, TC

Geschwind, DH

Nelson, SF

机构：

[1] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90095 USA

[3] Columbia Univ, Dept Genet & Dev, New York, NY USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2004年 / 75卷 / 06期

关键词：

D O I：

10.1086/426034

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We investigated the genetic aspects of the large sex bias in the prevalence of autism spectrum disorder by monitoring changes in linkage when the family set for an affected sibling pair genome scan is subdivided on the basis of the sex of affected children. This produces a significant excess in the total number of linkage peaks (P = 1.3 x 10(-8)) and identifies a major male-specific linkage peak at chromosome 17q11 (P < .01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases.

引用

收藏

页码：1117 / 1123

页数：7

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