Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWAS Contribute to Risk of Rheumatoid Arthritis, Diogo D, Kurreeman F, Stahl EA, Liao KP, Gupta N, Greenberg JD, Rivas MA, Hickey B, Flannick J, Thomson B, Guiducci C, Ripke S, Adzhubey I, Barton A, Kremer JM, Alfredsson L; Consortium of Rheumatology Researchers of North America; Rheumatoid Arthritis Consortium International, Sunyaev S, Martin J, Zhernakova A, Bowes J, Eyre S, Siminovitch KA, Gregersen PK, Worthington J, Klareskog L, Padyukov L, Raychaudhuri S, Plenge RM. Am J Hum Genet. 2013 Jan 10;92(1):15-27. Epub 2012 Dec 20. PMID: 23261300
We provide evidence that protein-coding variants from GWAS identified by GWAS contribute to risk of RA independent from non-coding variants discovered by GWAS. The same approach can be used to identify an allelic series that could be useful in identifying drug targets.