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

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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.

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Acknowledgments

This work was supported in part by funding from National Science Technology Pillar Program in the Eleventh Five-year Plan (No. 2008BAI59B02, 2008BAI59B03), National Natural Science Foundation of China (No. 30471617, 30640084, 30872331, 81072486). We thank Wei Chen and Feng Cheng of Beijing Institute of Genomics for their helps and suggestions in genotyping and data analysis.

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Authors and Affiliations

  1. Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College, and Chinese Academy of Medical Sciences, Beijing, China

    Haixia Luan, Ping Li, Chaojun Hu, Shulan Zhang, Xiaofeng Zeng, Fengchun Zhang & Yongzhe Li

  2. Laboratory of Cancer Genomics, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China

    Chunwei Cao, Chaohua Li & Changqing Zeng

Authors
  1. Haixia Luan
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  2. Ping Li
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  3. Chunwei Cao
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  4. Chaohua Li
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  5. Chaojun Hu
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  6. Shulan Zhang
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  7. Xiaofeng Zeng
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  8. Fengchun Zhang
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  9. Changqing Zeng
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  10. Yongzhe Li
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Corresponding authors

Correspondence to Changqing Zeng or Yongzhe Li.

Additional information

H. Luan, P. Li and C. Cao are co-first authors of this work.

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Luan, H., Li, P., Cao, C. et al. A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population. Rheumatol Int 32, 1251–1255 (2012). https://doi.org/10.1007/s00296-010-1767-9

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  • DOI: https://doi.org/10.1007/s00296-010-1767-9

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