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Updated: May 10, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association between CTLA-4 polymorphisms and susceptibility to Celiac disease: a meta-analysis
Gwan Gyu Song1, Jae-Hoon Kim, Young Ho Kim
1Division of Rheumatology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Republic of Korea.
Objective:
The study explored whether cytotoxic T lymphocyte antigen-4 (CTLA-4) polymorphisms confer susceptibility to Celiac disease (CD).
Methods:
A meta-analysis was conducted on the associations between the CTLA-4 CT60 A/G, +49 A/G, -318 C/T polymorphisms and CD using allele contrast, a recessive model, a dominant model, and homozygote contrast.
Results:
Thirteen separate comparison studies were considered in the meta-analysis consisting of 5072 patients with CD and 13,462 controls. All subjects were Europeans. Meta-analysis of the CTLA-4 CT60 A/G polymorphism showed an association between CD and the CTLA-4 CT60 G allele in all subjects [Odds ratio (OR) = 1.160, 95% Confidence interval (CI) = 1.104-1.219, p < 1.0 × 10(-9)). Meta-analysis using the recessive model also revealed an association between CD and the CTLA-4CT60 GG genotype (OR = 1.331, 95% CI = 1.093-1.620, p = 0.004). Furthermore, analyses using the dominant model and homozygote contrast showed the same pattern as that shown by the CTLA-4CT60 G allele. Meta-analysis of the CTLA-4 +49 A/G polymorphism showed no association between CD and the CTLA-4 +49 G allele in all subjects (OR = 0.992, 95% CI = 0.872-1.129, p = 0.907). Meta-analysis using the recessive, dominant model, and homozygote contrast showed the same pattern as that shown by the CTLA-4 +49 Gallele. Meta-analysis of the CTLA-4 -318 C/T polymorphism showed no association between CD and the CTLA-4 -318 T allele in all subjects (OR = 1.018, 95% CI = 0.813-1.275, p = 0.877).
Conclusions:
The CTLA-4 CT60 A/G polymorphism was associated with CD susceptibility, but no association was found between CTLA-4 +49 A/G and -318 C/T polymorphisms and CD in Europeans.
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