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.
Highlights
Together with three neighboring genes, C4 forms a genetic unit called the RCCX module (RP-C4A-CYP21-TNX or RP-C4B-CYP21-TNX)
Sixty-six articles were excluded because they were duplicate studies, abstracts or not related to CNVs in autoimmune diseases
The results suggested that low C4A GCNs (
Summary
Together with three neighboring genes, C4 forms a genetic unit called the RCCX module (RP-C4A-CYP21-TNX or RP-C4B-CYP21-TNX). C4A GCN varies from 0 to 5, while that of C4B varies from 0 to 4, with 2 being the most common for both genes[17]. In Caucasian populations from the US and Europe, ~80% of individuals have three or four C4 GCNs, 20% have five or six, and
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
