Heritability and genomics of gene expression in peripheral blood

We assessed gene expression profiles in 2,752 twins, using a classic twin design to quantify expression heritability and quantitative trait loci (eQTLs) in peripheral blood. The most highly heritable genes (∼777) were grouped into distinct expression clusters, enriched in gene-poor regions, associated with specific gene function or ontology classes, and strongly associated with disease designation. The design enabled a comparison of twin-based heritability to estimates based on dizygotic identity-by-descent sharing and distant genetic relatedness. Consideration of sampling variation suggests t... Mehr ...

Verfasser: Wright, Fred A
Sullivan, Patrick F
Brooks, Andrew I
Zou, Fei
Sun, Wei
Xia, Kai
Madar, Vered
Jansen, Rick
Chung, Wonil
Zhou, Yi-Hui
Abdellaoui, Abdel
Batista, Sandra
Butler, Casey
Chen, Guanhua
Chen, Ting-Huei
D'Ambrosio, David
Gallins, Paul
Ha, Min Jin
Hottenga, Jouke Jan
Huang, Shunping
Kattenberg, Mathijs
Kochar, Jaspreet
Middeldorp, Christel M
Qu, Ani
Shabalin, Andrey
Tischfield, Jay
Todd, Laura
Tzeng, Jung-Ying
van Grootheest, Gerard
Vink, Jacqueline M
Wang, Qi
Wang, Wei
Wang, Weibo
Willemsen, Gonneke
Smit, Johannes H
de Geus, Eco J
Yin, Zhaoyu
Penninx, Brenda WJH
Boomsma, Dorret I
Dokumenttyp: Artikel
Erscheinungsdatum: 2014
Reihe/Periodikum: Nature Genetics, vol 46, iss 5
Verlag/Hrsg.: eScholarship
University of California
Schlagwörter: Biotechnology / Human Genome / Genetics / Blood / Gene Expression Profiling / Gene Expression Regulation / Genotype / Humans / Inheritance Patterns / Likelihood Functions / Netherlands / Polymorphism / Single Nucleotide / Quantitative Trait Loci / Biological Sciences / Medical and Health Sciences / Developmental Biology
Sprache: unknown
Permalink: https://search.fid-benelux.de/Record/base-29158466
Datenquelle: BASE; Originalkatalog
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Link(s) : https://escholarship.org/uc/item/1700z0hv

We assessed gene expression profiles in 2,752 twins, using a classic twin design to quantify expression heritability and quantitative trait loci (eQTLs) in peripheral blood. The most highly heritable genes (∼777) were grouped into distinct expression clusters, enriched in gene-poor regions, associated with specific gene function or ontology classes, and strongly associated with disease designation. The design enabled a comparison of twin-based heritability to estimates based on dizygotic identity-by-descent sharing and distant genetic relatedness. Consideration of sampling variation suggests that previous heritability estimates have been upwardly biased. Genotyping of 2,494 twins enabled powerful identification of eQTLs, which we further examined in a replication set of 1,895 unrelated subjects. A large number of non-redundant local eQTLs (6,756) met replication criteria, whereas a relatively small number of distant eQTLs (165) met quality control and replication standards. Our results provide a new resource toward understanding the genetic control of transcription.