Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.

doi:10.1016/j.ajhg.2012.11.012

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Article

Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.

American journal of human genetics - 10 Jan 2013

Diogo Dorothée, Kurreeman Fina, Stahl Eli A, Liao Katherine P, Gupta Namrata, Greenberg Jeffrey D, Rivas Manuel A, Hickey Brendan, Flannick Jason, Thomson Brian, Guiducci Candace, Ripke Stephan, Adzhubey Ivan, Barton Anne, Kremer Joel M, Alfredsson Lars, Sunyaev Shamil, Martin Javier, Zhernakova Alexandra, Bowes John, Eyre Steve, Siminovitch Katherine A, Gregersen Peter K, Worthington Jane, Klareskog Lars, Padyukov Leonid, Raychaudhuri Soumya, Plenge Robert M

Abstract excerpt

The extent to which variants in the protein-coding sequence of genes contribute to risk of rheumatoid arthritis (RA) is unknown. In this study, we addressed this issue by deep exon sequencing and large-scale genotyping of 25 biological candidate genes located within RA risk loci discovered by genome-wide association studies (GWASs). First, we assessed the contribution of rare coding variants in the 25 genes to...

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Identifiers

PMID: 23261300
DOI: 10.1016/j.ajhg.2012.11.012
PMCID: PMC3542467

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rs699738

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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