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Sci Rep. 2017 Feb 16;7:42628. doi: 10.1038/srep42628.

Association between C4, C4A, and C4B copy number variations and susceptibility to autoimmune diseases: a meta-analysis.

Scientific reports

Na Li, Jun Zhang, Dan Liao, Lu Yang, Yingxiong Wang, Shengping Hou

Affiliations

  1. Basic Medical College, Chongqing Medical University, Chongqing, China.
  2. The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
  3. Basic Medical College, Chongqing Medical University, Chongqing, China. [email protected].
  4. The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. [email protected].
  5. Chongqing Eye Institute and Chongqing Key Laboratory of Ophthalmology, Chongqing, China. [email protected].

PMID: 28205620 PMCID: PMC5311832 DOI: 10.1038/srep42628

Abstract

Although several studies have investigated the association between C4, C4A, and C4B gene copy number variations (CNVs) and susceptibility to autoimmune diseases, the results remain inconsistency for those diseases. Thus, in this study, a comprehensive meta-analysis was conducted to assess the role of C4, C4A, and C4B CNVs in autoimmune diseases in different ethnic groups. A total of 16 case-control studies described in 12 articles (8663 cases and 11099 controls) were included in this study. The pooled analyses showed that a low C4 gene copy number (GCN) (<4) was treated as a significant risk factor (odds ratio [OR] = 1.46, 95% confidence interval [CI] = 1.19-1.78) for autoimmune diseases compared with a higher GCN (>4). The pooled statistical results revealed that low C4 (<4) and low C4A (<2) GCNs could be risk factors for systemic lupus erythematosus (SLE) in Caucasian populations. Additionally, the correlation between C4B CNVs and all type of autoimmune diseases could not be confirmed by the current meta-analysis (OR = 1.07, 95% CI = 0.93-1.24). These data suggest that deficiency or absence of C4 and C4A CNVs may cause susceptibility to SLE.

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