Increased paternal age and the influence on burden of genomic copy number variation in the general population
| العنوان: | Increased paternal age and the influence on burden of genomic copy number variation in the general population |
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| المؤلفون: | Hylke M. Blauw, René S. Kahn, Henning Tiemeier, Eric A. M. Hennekam, Roel A. Ophoff, Lambertus A. Kiemeney, Chiara Sabatti, Jan H. Veldink, Jacobine E. Buizer-Voskamp, Flip Mulder, Jacob A. S. Vorstman, Leonard H. van den Berg, André G. Uitterlinden, Marco P. Boks, Kristel R. van Eijk |
| المساهمون: | Child and Adolescent Psychiatry / Psychology, Internal Medicine |
| المصدر: | Human Genetics, 132, 443-50 Human Genetics, 132(4), 443-450. Springer-Verlag Human Genetics, 132, 4, pp. 443-50 |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Adult, Male, Parents, Mutation rate, medicine.risk_factor, DNA Copy Number Variations, Population, Aetiology, screening and detection [ONCOL 5], Biology, Polymorphism, Single Nucleotide, Mutation Rate, Genetics, medicine, Humans, Bipolar disorder, Copy-number variation, Paternal age effect, education, Genetics (clinical), Aged, Netherlands, Molecular epidemiology Aetiology, screening and detection [NCEBP 1], education.field_of_study, Age Factors, Middle Aged, medicine.disease, Human genetics, Genetics, Population, Mutation, Autism, Female, Algorithms, SNP array |
| الوصف: | Item does not contain fulltext Genomic copy number variations (CNVs) and increased parental age are both associated with the risk to develop a variety of clinical neuropsychiatric disorders such as autism, schizophrenia and bipolar disorder. At the same time, it has been shown that the rate of transmitted de novo single nucleotide mutations is increased with paternal age. To address whether paternal age also affects the burden of structural genomic deletions and duplications, we examined various types of CNV burden in a large population sample from the Netherlands. Healthy participants with parental age information (n = 6,773) were collected at different University Medical Centers. CNVs were called with the PennCNV algorithm using Illumina genome-wide SNP array data. We observed no evidence in support of a paternal age effect on CNV load in the offspring. Our results were negative for global measures as well as several proxies for de novo CNV events in this unique sample. While recent studies suggest de novo single nucleotide mutation rate to be dominated by the age of the father at conception, our results strongly suggest that at the level of global CNV burden there is no influence of increased paternal age. While it remains possible that local genomic effects may exist for specific phenotypes, this study indicates that global CNV burden and increased father's age may be independent disease risk factors. |
| تدمد: | 0340-6717 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f9de067da192e414201170660c2caae http://hdl.handle.net/2066/118646 |
| Rights: | RESTRICTED |
| رقم الانضمام: | edsair.doi.dedup.....7f9de067da192e414201170660c2caae |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 03406717 |
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