Increased female autosomal burden of rare copy number variants in human populations and in autism families
| Autor: | Gayle C. Windham, Cathleen K. Yoshida, M Kharrazi, Anthony R. Torres, Gerald N. DeLorenze, Lauren A. Weiss, Guillaume Desachy, Lisa A. Croen |
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| Rok vydání: | 2015 |
| Předmět: |
Male
DNA Copy Number Variations genetic structures Autism Spectrum Disorder Population Polymorphism Single Nucleotide Cellular and Molecular Neuroscience Meta-Analysis as Topic Pregnancy Risk Factors mental disorders Genetic variation medicine Humans Genetic Predisposition to Disease Copy-number variation Sibling education Molecular Biology Family Health Genetics education.field_of_study Chi-Square Distribution Genome Human Infant Newborn Case-control study medicine.disease Mother-Child Relations Psychiatry and Mental health Autism spectrum disorder Case-Control Studies Behavioral medicine Autism Female Psychology |
| Zdroj: | Molecular Psychiatry. 20:170-175 |
| ISSN: | 1476-5578 1359-4184 |
| Popis: | 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(-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 sex-matched comparisons. |
| Databáze: | OpenAIRE |
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