Increased female autosomal burden of rare copy number variants in human populations and in autism families.

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Bibliographic Details
Title:	Increased female autosomal burden of rare copy number variants in human populations and in autism families.
Authors:	Desachy, G., Croen, LA., Torres, AR., Kharrazi, M., Delorenze, GN, Windham, GC., Yoshida, CK., Weiss, LA.
Source:	Molecular Psychiatry. Feb2015, Vol. 20 Issue 2, p170-175. 6p.
Subjects:	Human genetic variation, DNA copy number variations, Autism spectrum disorders, Meta-analysis, Disease relapse, Genetics
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 e×cess in CNV number (P = 2.1 × IO -5) and gene content (P=4.1 ×10 3). 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 se×-matched comparisons. [ABSTRACT FROM AUTHOR]
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Database:	Psychology and Behavioral Sciences Collection

Description
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 e×cess in CNV number (P = 2.1 × IO -5) and gene content (P=4.1 ×10 3). 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 se×-matched comparisons. [ABSTRACT FROM AUTHOR]
ISSN:	13594184
DOI:	10.1038/mp.2014.179