@article {44,
	title = {Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes.},
	journal = {Nat Genet},
	volume = {50},
	year = {2018},
	month = {2018 10},
	pages = {1366-1374},
	abstract = {<p>To define potentially causal variants for autoimmune disease, we fine-mapped 76 rheumatoid arthritis (11,475 cases, 15,870 controls) and type 1 diabetes loci (9,334 cases, 11,111 controls). After sequencing 799 1-kilobase regulatory (H3K4me3) regions within these loci in 568 individuals, we observed accurate imputation for 89\% of common variants. We defined credible sets of <=5 causal variants at 5 rheumatoid arthritis and 10 type 1 diabetes loci. We identified potentially causal missense variants at DNASE1L3, PTPN22, SH2B3, and TYK2, and noncoding variants at MEG3, CD28-CTLA4, and IL2RA. We also identified potential candidate causal variants at SIRPG and TNFAIP3. Using functional assays, we confirmed allele-specific protein binding and differential enhancer activity for three variants: the CD28-CTLA4 rs117701653 SNP, MEG3 rs34552516 indel, and TNFAIP3 rs35926684 indel.</p>},
	keywords = {Alleles, Arthritis, Rheumatoid, Case-Control Studies, CD28 Antigens, Chromosome Mapping, CTLA-4 Antigen, Diabetes Mellitus, Type 1, Gene Frequency, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Jurkat Cells, Mutation, Polymorphism, Single Nucleotide, Quantitative Trait Loci, RNA, Long Noncoding, Tumor Necrosis Factor alpha-Induced Protein 3},
	issn = {1546-1718},
	doi = {10.1038/s41588-018-0216-7},
	author = {Westra, Harm-Jan and Mart{\'\i}nez-Bonet, Marta and Onengut-Gumuscu, Suna and Lee, Annette and Luo, Yang and Teslovich, Nikola and Worthington, Jane and Martin, Javier and Huizinga, Tom and Klareskog, Lars and Rantapaa-Dahlqvist, Solbritt and Chen, Wei-Min and Quinlan, Aaron and Todd, John A and Eyre, Steve and Nigrovic, Peter A and Gregersen, Peter K and Rich, Stephen S and Raychaudhuri, Soumya}
}
