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

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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]
Copyright of Molecular Psychiatry is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Increased female autosomal burden of rare copy number variants in human populations and in autism families.
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  Data: <searchLink fieldCode="AR" term="%22Desachy%2C+G%2E%22">Desachy, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Croen%2C+LA%2E%22">Croen, LA.</searchLink><br /><searchLink fieldCode="AR" term="%22Torres%2C+AR%2E%22">Torres, AR.</searchLink><br /><searchLink fieldCode="AR" term="%22Kharrazi%2C+M%2E%22">Kharrazi, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Delorenze%2C+GN%22">Delorenze, GN</searchLink><br /><searchLink fieldCode="AR" term="%22Windham%2C+GC%2E%22">Windham, GC.</searchLink><br /><searchLink fieldCode="AR" term="%22Yoshida%2C+CK%2E%22">Yoshida, CK.</searchLink><br /><searchLink fieldCode="AR" term="%22Weiss%2C+LA%2E%22">Weiss, LA.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Molecular+Psychiatry%22">Molecular Psychiatry</searchLink>. Feb2015, Vol. 20 Issue 2, p170-175. 6p.
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  Data: <searchLink fieldCode="DE" term="%22Human+genetic+variation%22">Human genetic variation</searchLink><br /><searchLink fieldCode="DE" term="%22DNA+copy+number+variations%22">DNA copy number variations</searchLink><br /><searchLink fieldCode="DE" term="%22Autism+spectrum+disorders%22">Autism spectrum disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Meta-analysis%22">Meta-analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+relapse%22">Disease relapse</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink>
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  Data: 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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  Data: <i>Copyright of Molecular Psychiatry is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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