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. 2017 Nov 27;8(66):110614-110624.
doi: 10.18632/oncotarget.22702. eCollection 2017 Dec 15.

Association between rs3087243 and rs231775 polymorphism within the cytotoxic T-lymphocyte antigen 4 gene and Graves' disease: a case/control study combined with meta-analyses

Yaqin Tu #  1 , Guorun Fan #  1 , Yu Dai  2 , Tianshu Zeng  3 , Fei Xiao  3 , Lulu Chen  3 , Wen Kong  3
Affiliations

Association between rs3087243 and rs231775 polymorphism within the cytotoxic T-lymphocyte antigen 4 gene and Graves' disease: a case/control study combined with meta-analyses

Yaqin Tu et al. Oncotarget. .

Abstract

We conducted a case/control study to assess the impact of SNP rs3087243 and rs231775 within the CTLA4 gene, on the susceptibility to Graves' disease (GD) in a Chinese Han dataset (271 cases and 298 controls). The frequency of G allele for rs3087243 and rs231775 was observed to be significantly higher in subjects with GD than in control subjects (p = 0.005 and p = 0.000, respectively). After logistic regression analysis, a significant association was detected between SNP rs3087243 and GD in the additive and recessive models. Similarly, association for the SNP rs231775 could also be detected in the additive model, dominant model and recessive model. A meta-analysis, including 27 published datasets along with the current dataset, was performed to further confirm the association. Consistent with our case/control results, rs3087243 and rs231775 showed a significant association with GD in all genetic models. Of note, ethnic stratification revealed that these two SNPs were associated with susceptibility to GD in populations of both Asian and European descent. In conclusion, our data support that the rs3087243 and rs231775 polymorphisms within the CTLA4 gene confer genetic susceptibility to GD.

Keywords: Graves’ disease; case/control study; cytotoxic T-lymphocyte antigen 4; polymorphism; susceptibility.

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Conflict of interest statement

CONFLICTS OF INTEREST The authors declare that they have no conflicts of interest.

Figures

Figure 1
Figure 1. The human CTLA4 gene structure and known polymorphisms
Figure 2
Figure 2. Flow chart for selection of eligible datasets for systematic reviews and meta-analysis (PRISMA)
Figure 3
Figure 3. Forest plot for the association of CTLA4 rs3087243 and rs231775 polymorphism with Graves' disease after ethnic stratification
(A) dominant model for SNP rs3087243 [(GG + GA) vs. AA)], (B) recessive model for SNP rs231775 [GG vs. (GA + AA)].
Figure 4
Figure 4. Funnel plot analysis to detect publication bias
Each point represents a separate study for the indicated association. (A) Begg's funnel of publication bias test for SNP rs3087243: [(GG+GA) vs. AA)]; (B) Begg's funnel of publication bias test for SNP rs231775: [GG vs. (GA+AA)].
Figure 5
Figure 5. Sequence diagrams of SNP rs3087243 and rs231775
(A) Sequence diagrams of rs231775; (B) Sequence diagrams of rs3087243.
See this image and copyright information in PMC

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