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Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes
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2018 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 50, no 10, p. 1366-+Article in journal (Refereed) Published
Abstract [en]

To define potentially causal variants for autoimmune disease, we fine-mapped(1,2) 76 rheumatoid arthritis (11,475 cases,15,870 controls)(3) and type 1 diabetes loci (9,334 cases, 11,111 controls)(4). 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.

Place, publisher, year, edition, pages
Nature Publishing Group, 2018. Vol. 50, no 10, p. 1366-+
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Medical Genetics
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URN: urn:nbn:se:umu:diva-152883DOI: 10.1038/s41588-018-0216-7ISI: 000446047000008PubMedID: 30224649OAI: oai:DiVA.org:umu-152883DiVA, id: diva2:1259855
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NIH (National Institute of Health), P30 AR070253NIH (National Institute of Health), R01 AR065538Available from: 2018-10-31 Created: 2018-10-31 Last updated: 2018-10-31Bibliographically approved

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Rantapää-Dahlqvist, Solbritt

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Martin, JavierRantapää-Dahlqvist, SolbrittQuinlan, Aaron
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CiteExportLink to record
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