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Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.

Accepted version
Peer-reviewed

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Type

Article

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Authors

Zengini, Eleni 
Hatzikotoulas, Konstantinos  ORCID logo  https://orcid.org/0000-0002-4699-3672
Tachmazidou, Ioanna 
Steinberg, Julia 
Hartwig, Fernando P  ORCID logo  https://orcid.org/0000-0003-3729-0710

Abstract

Osteoarthritis is a common complex disease imposing a large public-health burden. Here, we performed a genome-wide association study for osteoarthritis, using data across 16.5 million variants from the UK Biobank resource. After performing replication and meta-analysis in up to 30,727 cases and 297,191 controls, we identified nine new osteoarthritis loci, in all of which the most likely causal variant was noncoding. For three loci, we detected association with biologically relevant radiographic endophenotypes, and in five signals we identified genes that were differentially expressed in degraded compared with intact articular cartilage from patients with osteoarthritis. We established causal effects on osteoarthritis for higher body mass index but not for triglyceride levels or genetic predisposition to type 2 diabetes.

Description

Keywords

Biological Specimen Banks, Chromosome Mapping, Female, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Male, Osteoarthritis, RNA, Untranslated, United Kingdom

Journal Title

Nat Genet

Conference Name

Journal ISSN

1061-4036
1546-1718

Volume Title

50

Publisher

Springer Science and Business Media LLC
Sponsorship
Medical Research Council (MC_PC_12009)