Dokumentenart: | Artikel | ||||
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Titel eines Journals oder einer Zeitschrift: | PLoS Genetics | ||||
Verlag: | PUBLIC LIBRARY SCIENCE | ||||
Ort der Veröffentlichung: | SAN FRANCISCO | ||||
Band: | 10 | ||||
Nummer des Zeitschriftenheftes oder des Kapitels: | 7 | ||||
Seitenbereich: | e1004508 | ||||
Datum: | 2014 | ||||
Institutionen: | Medizin > Institut für Epidemiologie und Präventivmedizin | ||||
Identifikationsnummer: |
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Stichwörter / Keywords: | QUANTITATIVE TRAIT LOCI; LINKAGE ANALYSIS; OBESITY; CHILDREN; ASSOCIATIONS; PENETRANCE; ALCOHOLISM; VARIANCES; FAMILIES; GENES; | ||||
Dewey-Dezimal-Klassifikation: | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin | ||||
Status: | Veröffentlicht | ||||
Begutachtet: | Ja, diese Version wurde begutachtet | ||||
An der Universität Regensburg entstanden: | Ja | ||||
Dokumenten-ID: | 61352 |
Zusammenfassung
The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated ...
Zusammenfassung
The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of similar to 4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P < 0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P < 0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.
Metadaten zuletzt geändert: 19 Dez 2024 08:09