High density genetic mapping identifies new susceptibility loci for rheumatoid arthritis
By S. Eyre, J. Bowes, D. Diogo, Annette Lee, A. Barton, Paul Martin, A. Zhernakova, Eli A. Stahl, S. Viatte, Kate McAllister and 34 more. Nature Genetics, 2012
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Using the Immunochip custom SNP array, which was designed for dense genotyping of 186 loci identified through genome-wide association studies (GWAS), we analyzed 11,475 individuals with rheumatoid arthritis (cases) of European ancestry and 15,870 controls for 129,464 markers. We combined these data in a meta-analysis with GWAS data from additional independent cases (n = 2,363) and controls (n = 17,872). We identified 14 new susceptibility loci, 9 of which were associated with rheumatoid arthritis overall and five of which were specifically associated with disease that was positive for anticitrullinated peptide antibodies, bringing the number of confirmed rheumatoid arthritis risk loci in individuals of European ancestry to 46. We refined the peak of association to a single gene for 19 loci, identified secondary independent effects at 6 loci and identified association to low-frequency variants at 4 loci. Bioinformatic analyses generated strong hypotheses for the causal SNP at seven loci. This study illustrates the advantages of dense SNP mapping analysis to inform subsequent functional investigations.
Subfields: Genetics, Pathology and Forensic Medicine, Rheumatology
View Paper: https://www.semanticscholar.org/paper/d0c60a8ca25ae68e1e434cb3a3396b85bb17077c
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Citations in the corpus
- Mapping the human genetic architecture of COVID-19 (2021, neutral): “An additional independent missense variant rs2304256:C>A (p.Val362Phe; r 2 = 0.08 with rs34536443) in TYK2 was also associated with critical illness (OR [95”
- Five years of GWAS discovery. (2012, background): “g, the association of MTMR3 gene that was associated with lung cancer [31], Nephrophaty [32], and inflammatory bowel disease [33], [34] (Figure S17).”
- Genetics of rheumatoid arthritis contributes to biology and drug discovery (2013, neutral): “1 and Extended Data Table 1a, as well as in previous reports 2–4 .”