Abundant associations with gene expression complicate GWAS follow-up

With increasing cohort size and phenotyping, GWAS have identified more than 70,000 associated variants1. Because as many as 90% of GWAS variants fall within non-coding regions, most of them have unknown functional importance2. [...]LocusCompare integrates eQTLs from 48 tissues in the GTEx study (ver...

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Veröffentlicht in:Nature genetics Jg. 51; H. 5; S. 768 - 769
Hauptverfasser: Liu, Boxiang, Gloudemans, Michael J., Rao, Abhiram S., Ingelsson, Erik, Montgomery, Stephen B.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: New York Nature Publishing Group US 01.05.2019
Nature Publishing Group
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Agriculture
Animal Genetics and Genomics
Bioengineering
Bioinformatics
Biomedical and Life Sciences
Biomedicine
Brain
Cancer Research
Cardiovascular agents
Cardiovascular disease
Coronary artery
Coronary vessels
Correspondence
Databases, Genetic
Datasets
Diabetes mellitus
Diabetes research
False Positive Reactions
Follow-Up Studies
Gene Expression
Gene Function
Genetic research
Genetics
Genome-wide association studies
Genome-Wide Association Study - statistics & numerical data
Genomics
Human Genetics
Humans
Hypotheses
Management
Medical schools
Medicine
Methods
Methylation
Muscles
Phenotyping
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Retina
Smooth muscle
Software
Splicing
Studies
Visualization
ISSN:1061-4036, 1546-1718, 1546-1718
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Zusammenfassung:With increasing cohort size and phenotyping, GWAS have identified more than 70,000 associated variants1. Because as many as 90% of GWAS variants fall within non-coding regions, most of them have unknown functional importance2. [...]LocusCompare integrates eQTLs from 48 tissues in the GTEx study (version 7)3; eQTLs and splicing QTLs from coronary artery smooth muscle cells9 and retinal pigment epithelial cells10; and methylation QTLs from brain tissues11,12 and whole blood13. 'Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA. 6Stanford Cardiovascular Institute, Stanford University, Stanford, CA, USA. 7Stanford Diabetes Research Center, Stanford University, Stanford, CA, USA.8Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. 9
Bibliographie:SourceType-Scholarly Journals-1
ObjectType-Correspondence-2
content type line 14
ObjectType-Letter to the Editor-1
ObjectType-Article-2
ObjectType-Correspondence-1
content type line 23
B.L. and S.B.M. designed the study. B.L., M.J.G. and A.S.R. performed analyses. E.I. provided study support and feedback. B.L., M.J.G. and S.B.M. wrote the paper. B.L. and M.J.G. contributed equally to this work.
Author contributions
ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/s41588-019-0404-0