학술논문
Increased female autosomal burden of rare copy number variants in human populations and in autism families
Document Type
Academic Journal
Author
Source
Molecular Psychiatry. Feb 01, 2015 20(2):170-175
Subject
Language
English
ISSN
1359-4184
Abstract
Autosomal genetic variation is presumed equivalent in males and females and makes a major contribution to disease risk. We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectrum disorders (ASDs). Surprisingly, we observed a higher autosomal burden of large, rare CNVs in females in the population, reflected in, but not unique to, ASD families. Meta-analysis across control data sets confirms female excess in CNV number (P = 2.1 × 10) and gene content (P = 4.1 × 10). We additionally observed CNV enrichment in ASD mothers compared with control mothers (P = 0.03). We speculate that tolerance for CNV burden contributes to decreased female fetal loss in the population and that ASD-specific maternal CNV burden may contribute to high sibling recurrence. These data emphasize the need for study of familial CNV risk factors in ASDs and the requirement of sex-matched comparisons.