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Rs4948496 within ARID5B gene is associated with clinical features of systemic lupus erythematosus in the Chinese Han population
Authors:Long Jiang  Jianping Wu  Weiran Li  Juan Du  Wenjun Wang  Zhengwei Zhu  Jinping Gao  Yujun Sheng  Xianyong Yin  Xiaodong Zheng  Hui Li  Yang Li  Li Meng  Xing Fan  Shengxiu Liu  Ming Zeng  Zaixing Wang  Yong Cui  Huayang Tang  Liangdan Sun  Sen Yang  Xuejun Zhang
Affiliation:1. Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, China;2. Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
Abstract:In our previous meta‐analysis of genome‐wide association study, we identified the single nucleotide polymorphism (SNP) rs4948496 (= 5.1 × 10?11, odds ratio [OR] = 0.85) within the ARID5B gene associated with systemic lupus erythematosus (SLE) in a Chinese population. To investigate its association with disease subphenotypes, we further analyzed the genotype data of rs4948496 in 4348 cases and 6679 controls from our previous meta‐analysis and an independent replication cohort in this study. The SNP rs4948496 was significantly associated with SLE (= 1.61 × 10?5, OR = 0.88, 95% confidence interval [CI] = 0.83–0.93) in our group. In case‐only study, the genotype of rs4948496 was associated with antinuclear antibodies (= 0.03, OR = 0.81, 95% CI = 0.68–0.98) and anti‐RNP (= 0.03, OR = 0.86, 95% CI = 0.76–0.99). This study showed that rs4948496 in ARID5B is associated with several subphenotypes of SLE and this gene may cause the complicacy of clinical features.
Keywords:genotype  phenotype  single nucleotide polymorphism  susceptibility gene  systemic lupus erythematosus
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