Original Article

Rheumatology International

, Volume 32, Issue 5, pp 1251-1255

First online:

A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population

  • Haixia LuanAffiliated withDepartment of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, and Chinese Academy of Medical Sciences
  • , Ping LiAffiliated withDepartment of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, and Chinese Academy of Medical Sciences
  • , Chunwei CaoAffiliated withLaboratory of Cancer Genomics, Beijing Institute of Genomics, Chinese Academy of Sciences
  • , Chaohua LiAffiliated withLaboratory of Cancer Genomics, Beijing Institute of Genomics, Chinese Academy of Sciences
  • , Chaojun HuAffiliated withDepartment of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, and Chinese Academy of Medical Sciences
  • , Shulan ZhangAffiliated withDepartment of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, and Chinese Academy of Medical Sciences
  • , Xiaofeng ZengAffiliated withDepartment of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, and Chinese Academy of Medical Sciences
  • , Fengchun ZhangAffiliated withDepartment of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, and Chinese Academy of Medical Sciences
  • , Changqing ZengAffiliated withLaboratory of Cancer Genomics, Beijing Institute of Genomics, Chinese Academy of Sciences Email author 
    • , Yongzhe LiAffiliated withDepartment of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, and Chinese Academy of Medical Sciences Email author 

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Abstract

Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. Genetic association of signal transducer and activator of transcription 4 (STAT4) with SLE susceptibility has been convincingly established in multiple populations including Asians, whereas studies of genetic relations between STAT4 polymorphisms and subphenotypes of SLE were rarely conducted. In this study, we selected Chinese female population and investigated genetic association between a polymorphism of STAT4 gene (rs7582694) and SLE. Furthermore, genetic association tests based on different subsets classified by 11 clinical manifestations were also performed. A total of 675 SLE female patients and 678 healthy controls were enrolled into this study, and SNP genotyping was performed using Sequenom’s MassArray system (Sequenom iPLEX assay). Our study showed strong evidence for genetic predisposition of rs7582694 to SLE (X 2  = 23.7, OR = 0.68, 95% CI: 0.58–0.79, P = 1.13 × 10−6), while no association was observed between rs7582694 and any clinical presentations. The results of our study demonstrated that STAT4 rs7582694 SNP was significantly associated with SLE, and these results were in accordance with previous studies.

Keywords

STAT4 SLE Polymorphism Genetic susceptibility Female patients