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01.10.2012 | Original Article

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

verfasst von: 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

Erschienen in: Rheumatology International | Ausgabe 10/2012

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Abstract

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.

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Titel: Confirmation of C4 gene copy number variation and the association with systemic lupus erythematosus in Chinese Han population
verfasst von: 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
Publikationsdatum: 01.10.2012
Verlag: Springer-Verlag
Erschienen in: Rheumatology International / Ausgabe 10/2012
Print ISSN: 0172-8172
Elektronische ISSN: 1437-160X
DOI: https://doi.org/10.1007/s00296-011-2023-7

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