4.5 Article

A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

期刊

HUMAN MOLECULAR GENETICS
卷 22, 期 19, 页码 4021-4029

出版社

OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddt248

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资金

  1. GEN-FER from the Spanish Society of Rheumatology
  2. Ministerio de Economia y Competitividad [SAF2009-11110, SAF2012-34435]
  3. Junta de Andalucia (Spain) [CTS-4977]
  4. Redes Tematicas de Investigacion Cooperativa Sanitaria Program
  5. Instituto de Salud Carlos III (ISCIII, Spain) [RD08/0075]
  6. Fondo Europeo de Desarrollo Regional (FEDER)
  7. NIH NIAID [1U01AI09090-01]
  8. VIDI laureate from the Dutch Association of Research (NWO)
  9. Dutch Arthritis Foundation (National Reumafonds)
  10. ERC
  11. Orphan Disease Program grant from the European League Against Rheumatism (EULAR)
  12. Dutch Diabetes Research Foundation [2008.40.001]
  13. Dutch Arthritis Foundation (Reumafonds) [NR 09-1-408]
  14. NIH/NIAMS Scleroderma Family Registry and DNA Repository [N01-AR-0-2251]
  15. NIH/NIAMS Center of Research Translation in Scleroderma [1P50AR054144]
  16. Department of Defense Congressionally Directed Medical Research Programs [W81XWH-07-01-0111]
  17. Instituto de Salud Carlos III partially through FEDER funds of the European Union [PS09/00129]
  18. Consejeria de Salud de Andalucia [PI0012]
  19. Fundacion Ramon Areces
  20. Swedish Research Council
  21. European Science Foundation
  22. [NIH/NIAMS-RO1-AR055258]
  23. [K23-AR-061436]
  24. [KFO 250]
  25. [TP03]
  26. [WI 1031/6-1]

向作者/读者索取更多资源

Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are two archetypal systemic autoimmune diseases which have been shown to share multiple genetic susceptibility loci. In order to gain insight into the genetic basis of these diseases, we performed a pan-meta-analysis of two genome-wide association studies (GWASs) together with a replication stage including additional SSc and SLE cohorts. This increased the sample size to a total of 21 109 (6835 cases and 14 274 controls). We selected for replication 19 SNPs from the GWAS data. We were able to validate KIAA0319L (P = 3.31 x 10(-11), OR = 1.49) as novel susceptibility loci for SSc and SLE. Furthermore, we also determined that the previously described SLE susceptibility loci PXK (P = 3.27 x 10(-11), OR = 1.20) and JAZF1 (P = 1.11 x 10(-8), OR = 1.13) are shared with SSc. Supporting these new discoveries, we observed that KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls. With these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity.

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