期刊
NATURE COMMUNICATIONS
卷 13, 期 1, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s41467-022-30773-y
关键词
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资金
- National Institutes of Health (NIH) [HHSN268200782096C, HHSN268201100011I, HHSN268201200008I, R01AR073855, R01AR065953, R01AR074310, P50AR060804, R01AR050782, R01DE018209, R33AR076803, R21AR079089]
- NIDCR Sjogren's Syndrome Clinic
- NIDCR Division of Intramural Research at the National Institutes of Health funds [Z01-DE000704]
- Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany's Excellence Strategy [EXC 2155, 390874280]
- Research Council of Norway (Oslo, Norway) [240421, 316120]
- Western Norway Regional Health Authority (Helse Vest) [911807, 912043]
- Swedish Research Council for Medicine and Health
- Swedish Rheumatism Association
- King Gustav V's 80-year Foundation
- Swedish Society of Medicine
- Swedish Cancer Society
- Sjogren's Syndrome Foundation
- Phileona Foundation
- Stockholm County Council
- Swedish Research Council [2017-000641]
- Assistance Publique-Hopitaux de Paris (Ministry of Health) [P060228]
- French society of Rheumatology
- National Institute of Aging [RC2 AG036495, RC4 AG039029]
- National Institute of Dental and Craniofacial Research (NIDCR)
- National Eye Institute
- Office of Research on Women's Health [N01-DE-32636]
- NIDCR through CIDR's NIH contract
This study identifies ten novel genetic risk regions associated with Sjogren's disease, implicating genes involved in immune and salivary gland function.
Sjogren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjogren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands. The genetic architecture underlying Sjogren's syndrome is not fully understood. Here, the authors perform a genome-wide association study to identify 10 new genetic risk regions, implicating genes involved in immune and salivary gland function.
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