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Polymorphisms at 16p13 are associated with systemic lupus erythematosus in the Chinese population
  1. Zheng Zhang1,2,
  2. Yilin Cheng1,2,
  3. Xueya Zhou3,
  4. Yang Li1,2,
  5. Jinping Gao1,2,
  6. Jianwen Han1,2,
  7. Cheng Quan1,2,
  8. Sumin He1,2,
  9. Yongmei Lv1,2,
  10. Dayan Hu1,2,
  11. Kunju Zhu1,2,
  12. Liangdan Sun1,2,
  13. Sen Yang1,2,
  14. Xuejun Zhang1,2
  1. 1Institute of Dermatology and Department of Dermatology at No 1 Hospital, Anhui Medical University, Hefei, Anhui, China
  2. 2Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China
  3. 3MOE Key Laboratory of Bioinformatics and Bioinformatics Division, TNLIST/Department of Automation, Tsinghua University, Beijing, China
  1. Correspondence to Professor Sen Yang, Institute of Dermatology, Anhui Medical University, 81 Meishan Road, Hefei, Anhui 230032, PR China; ayzxj{at}


Background Chromosomal region 16p13 has been reported to harbour variants associated with several autoimmune diseases, including type I diabetes, rheumatoid arthritis and multiple sclerosis.

Objective To test whether variants in the 16p13 region are also associated with systemic lupus erythematosus (SLE) by performing a candidate locus study in the Chinese Han population.

Methods Tag single nucleotide polymorphisms (SNPs) encompassing 50 kb upstream and downstream of the 250 kb linkage disequilibrium block, previously implicated in several autoimmune diseases, were analysed in 1047 patients with SLE and 1205 controls. The SNP showing the strongest association with SLE was then replicated in an independent cohort of 1643 cases and 5930 controls.

Results and conclusions The association between SNP rs12599402 and SLE reached the genome-wide significance level (p<5 × 10−8). The SNP was likely to tag the same functional variant as previously reported in European populations. The results suggested that the chromosomal region at 16p13 contains common susceptibility genes for different immune-mediated disorders.

  • Rheumatology
  • genetics
  • association
  • Chinese

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  • ZZ and YC contributed equally to this work.

  • Funding This work was funded by the National Natural Science Foundation (30972727) and the Anhui Skin Genetic Study Innovative Research Team Program (TD200701).

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the ethics committee of Anhui Medical University, and according to the Declaration of Helsinki principles.

  • Provenance and peer review Not commissioned; externally peer reviewed.