Confirmation of C4 gene copy number variation and the association with systemic lupus erythematosus in Chinese Han population.

Yongmei Lv, Sumin He, Zheng Zhang, Yang Li, Dayan Hu, Kunju Zhu, Hui Cheng, Fusheng Zhou, Gang Chen, Xiaodong Zheng, Pan Li, Yunqing Ren, Xianyong Yin, Yong Cui, Liangdan Sun, Sen Yang, Xuejun Zhang

Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, People's Republic of China.

Rheumatology international 2012 Oct

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The distribution of complement component 4 (C4) gene copy number (GCN) has been validated in European populations. Meanwhile, C4 gene has been identified as a susceptibility gene for systemic lupus erythematosus (SLE). However, the association and the possible phenotype significance remain to be determined intensely in the Chinese population. This study was designed to validate the distribution of C4 GCNs in Chinese Han and the correlation between C4 GCNs and SLE using quantitative real-time polymerase chain reaction in 924 SLE patients and 1,007 controls. The results presented distribution of C4 GCNs in healthy populations and also showed that lower C4 GCN was a risk factor for SLE and higher C4 GCN was a protective factor against the disease susceptibility, which was similar to the report in the Caucasian population. Furthermore, we found the association between C4A GCN and disease subphenotypes of arthritis with SLE. We conclude that the association of C4 GCN with SLE was replicated in Chinese Han population, which highlighted the importance of C4 in SLE pathogenesis of diverse populations.

Citation

Yongmei Lv, Sumin He, Zheng Zhang, Yang Li, Dayan Hu, Kunju Zhu, Hui Cheng, Fusheng Zhou, Gang Chen, Xiaodong Zheng, Pan Li, Yunqing Ren, Xianyong Yin, Yong Cui, Liangdan Sun, Sen Yang, Xuejun Zhang. Confirmation of C4 gene copy number variation and the association with systemic lupus erythematosus in Chinese Han population. Rheumatology international. 2012 Oct;32(10):3047-53