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Updated: Jun 10, 2025
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of four CTLA-4 gene polymorphisms with pemphigus risk: a systematic review, meta-analysis, and
Tarak Dhaouadi1, Awatef Riahi1, Taïeb Ben Abdallah1
1Research Laboratory in Immunology of Renal Transplantation and Immunopathology (LR03SP01), Charles Nicolle Hospital, Tunis El Manar University, Tunisia.
Objectives:
This review aimed to summarize the existing data on the contribution of four single nucleotide polymorphisms (SNPs) in the cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) genes to pemphigus susceptibility.
Methods:
An electronic literature search for eligible studies among those published prior to 30 April 2024 was conducted through the PubMed, EMBASE, Web of Science, and Scopus databases. To minimize publication bias, an additional search was performed via the Google Scholar and Semantic Scholar search engines. Meta-analyses, together with subgroup analyses and meta-regressions, were performed for the following four CTLA-4 SNPs: rs231775, rs5742909, rs3087243, and rs733618.
Results:
Combined analyses revealed a significant increase in pemphigus risk conferred by the CTLA-4 rs5742909*C and rs733618*C alleles. Conversely, there was no evidence of any significant association between the rs231775*G and rs3087243*G alleles and susceptibility to pemphigus. Subgroup analyses by ethnicity and pemphigus type (vulgaris or foliaceus) and meta-regressions did not reveal any significant difference.
Conclusion:
This meta-analysis suggested that two of the four investigated CTLA-4 SNPs were significantly associated with increased pemphigus risk.Registration: This review has been registered on PROSPERO: CRD42024550668; available from: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42024550668.
