Association of STAT4 gene polymorphism with increased susceptibility of rheumatoid arthritis in Northern Chinese Han Subpopulation

Zhao Yi; Xu Liu; Xia Liu; Yin Su; Yanmei Li; Shiyao Wang; Xiaoping Zhang; Lei Zhu; Tian Wang; Quan Jiang; Xiangyuang Liu; Xiaoxia Li; Cibo Huang; Rulin Jia; Xiaolan Lu; Jianping Guo; Zhanguo Li

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Association of STAT4 gene polymorphism with increased susceptibility of rheumatoid arthritis in Northern Chinese Han Subpopulation

Zhao Yi 1,Xu Liu 2,Xia Liu 3,Yin Su 4,Yanmei Li 3,Shiyao Wang 3,Xiaoping Zhang 3,Lei Zhu 3,Tian Wang 5,Quan Jiang 6,Xiangyuang Liu 7,Xiaoxia Li 8,Cibo Huang 9,Rulin Jia 3,Xiaolan Lu 3,Jianping Guo 3,Zhanguo Li 3 *

1.Department of Rheumatology and Immunology, Peking University People\'s Hospital, Beijing 100044

2.Department of Rheumatology and Immunology, Peking University People's Hospital

3.Department of Rheumatology and Immunology, Peking University People's Hospital

4.Department of Rheumatology and Immunology, Peking University People's Hospital.

5. Department of Rheumatology & Immunology, Beijing Tongren Hospital

6.Department of Rheumatology & Immunology, Guang Anmen Hospital

7.Department of Rheumatology & Immunology, Peking University Third Hospital

8.Department of Rheumatology & Allergy, Xuanwu Hospital, Capital Medical University

9.Department of Rheumatology & Immunology，Beijing Hospital

*Correspondence author

#Submitted by

Subject:

Funding: Beijing Natural Science Foundation（No.7072085）, Major International Joint Research Project from NSFC（No.No: 81120108020）, National Natural Science Foundation of China （No.30901319）, Doctoral Fund of Ministry of Education of China（No.No: 20090001110082）, Program of International Science & Technology Cooperation from MOST（No.No: 2010DFB34000）, the Major State Basic Research Development Program of China (973 Program)（No.No. 2010CB529100 ）

Opened online:17 January 2013

Accepted by: none

Citation: Zhao Yi ,Xu Liu,Xia Liu.Association of STAT4 gene polymorphism with increased susceptibility of rheumatoid arthritis in Northern Chinese Han Subpopulation[OL]. [17 January 2013] http://en.paper.edu.cn/en_releasepaper/content/4514204

Objective Several studies have reported that a variant of STAT4 rs7574865 is strongly associated with increased susceptibility of RA in European, Korean, and Japanese populations. However, a recent study from China showed no association between STAT4 rs7574865 polymorphism and RA susceptibility in Chinese Han subpopulation. Since the Northern Hans are known to be genetically different from the Southern Hans, the aim of this study was to investigate the association of STAT4 polymorphism with RA in a large cohort of Northern Chinese Han subpopulation. Methods Six hundred forty unrelated RA patients and 662 healthy controls were enrolled in this study. All samples were genotyped for SNP rs7574865 in STAT4 by polymerase chain reaction (PCR) and direct sequencing. The association of SNP rs7574865 with RA susceptibility was calculated and the relationship between rs7574865 polymorphism and RA subgroups stratified by clinical features was estimated. Results We confirmed a significant association of STAT4 rs7574865 polymorphism with RA susceptibility in Northern Chinese Han population. The frequency of the minor T allele in RA patients was significantly higher than in healthy controls (35.2% vs 31.1%; P=0.029, OR 1.2[95% CI 1.02-1.41]). There was also a significant difference in the distribution of the genotypes of SNP rs7574865 between RA patients and healthy controls (P=0.02). However, we did not find any associations between the genetic risk and clinical and laboratory features in different RA subgroups and healthy controls in Northern Hans with regard to age, duration of disease, gender, family history and presence of RA-related autoantibodies. Conclusion STAT4 SNP rs7574865 is significantly associated with RA susceptibility in Northern Chinese Han subpopulation. The genetic differences of Han subpopulations should be considered when genetic susceptibility for diseases is studied.

Keywords:Rheumatoid arthritis; Single nucleotide polymorphism; STAT4

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