Heritability and genomics of gene expression in peripheral blood
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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.
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Replication was lower for a meta-analysis of mixed brain regions (π1 = 0.62) and for blood eQTLs (π1 = 0.54).
“Replication was somewhat lower for a recent meta-analysis that included a mix of several distinct brain regions19 (π1 = 0.62), and for eQTLs detected in blood (π1 = 0.54)20.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [20]
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Biological insights from 108 schizophrenia-associated genetic loci
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Self-citationThe role of regulatory variation in complex traits and disease
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Impact of Genetic Polymorphisms on Human Immune Cell Gene Expression
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
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Stroke genetics informs drug discovery and risk prediction across ancestries
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Self-citationTrans effects on gene expression can drive omnigenic inheritance
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Disease variants alter transcription factor levels and methylation of their binding sites
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The Genetic Architecture of Gene Expression in Peripheral Blood
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Self-citationQuantifying the regulatory effect size of cis -acting genetic variation using allelic fold changePreprint
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Self-citationCommon Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD
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- Authors
- Wright, F. A., Sullivan, P. F., Brooks, A. I., Zou, F., Sun, W., Xia, K., Madar, V., Jansen, R., Chung, W., Zhou, Y.-H., Abdellaoui, A., Batista, S., Butler, C., Chen, G., Chen, T.-H., D'Ambrosio, D., Gallins, P., Ha, M. J., Hottenga, J. J., Huang, S., Kattenberg, M., Kochar, J., Middeldorp, C. M., Qu, A., Shabalin, A., Tischfield, J., Todd, L., Tzeng, J.-Y., van Grootheest, G., Vink, J. M., Wang, Q., Wang, W., Wang, W., Willemsen, G., Smit, J. H., de Geus, E. J., Yin, Z., Penninx, B. W. J. H., & Boomsma, D. I.
- Affiliations
- North Carolina State University (US)
- University of North Carolina at Chapel Hill (US)
- Rutgers, The State University of New Jersey (US)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Vrije Universiteit Amsterdam (NL)
- Virginia Commonwealth University (US)
- Corresponding author
- Wright, Fred A
- Sullivan, Patrick F
- ORCID
- Wright, Fred A
- Sullivan, Patrick F
- Zou, Fei
- Sun, Wei
- Xia, Kai
- Madar, Vered
- Jansen, Rick
- Chung, Wonil
- Zhou, Yi-Hui
- Abdellaoui, Abdel
- Batista, Sandra
- Chen, Guanhua
- Gallins, Paul
- Ha, Min Jin
- Hottenga, Jouke Jan
- Middeldorp, Christel M
- Shabalin, Andrey
- Tischfield, Jay
- Tzeng, Jung-Ying
- Vink, Jacqueline M
- Wang, Qi
- Wang, Wei
- Wang, Weibo
- Willemsen, Gonneke
- Smit, Johannes H
- Penninx, Brenda W J H
- Boomsma, Dorret I
- Venue
- Nature Genetics
- Published
- 2014-04-13
- Volume
- 46
- Issue
- 5
- Pages
- 430-437
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4012342
- OpenAlex
- W2085126855
- Cited by
- 362
- References
- 92
- Citations by year
- 2026: 10 · 2025: 12 · 2024: 25 · 2023: 21 · 2022: 22 · 2021: 31 · 2020: 42 · 2019: 39 · 2018: 39 · 2017: 42 · 2016: 34 · 2015: 34 · 2014: 11
- FWCI
- 26.42
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- VU Research Portal (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- Vrije Universiteit Amsterdam
- National Institutes of Health
- National Institute of Mental Health (R01MH101819, U24MH068457, R01MH090936, RC2MH089951)
- National Institute on Drug Abuse (R25DA026119)
- National Cancer Institute (P30CA016086)
- National Institute of General Medical Sciences (R01GM074175)
- National Institute of Environmental Health Sciences (P42ES005948, P30ES010126)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- expression quantitative trait loci, peripheral blood gene expression, gene expression clusters
- MeSH terms
- Blood, Gene Expression Regulation, Genotype, Humans, Netherlands, Likelihood Functions, Polymorphism, Single Nucleotide, Gene Expression Profiling, Inheritance Patterns, Quantitative Trait Loci
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