Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves' disease in a Chinese Han population

BMC Medical Genetics
Xiaoming ChenGe Wu

Abstract

Single-nucleotide polymorphism (SNP) haplotype and SNP-SNP interactions of CTLA-4 and CD40 genes, with susceptibility to Graves' disease (GD), were explored in a Chinese Han population. SNP were genotyped by high resolution melting (HRM). Use the method of Pearson χ2 test and Logistic regression for the association between single SNP and Graves' disease. Using the method of χ2 test and Multifactor Dimensionality Reduction (MDR) to analysis the haplotype frequency distribution, the interaction of SNPs respectively. Genotypic and allelic frequencies of SNP rs231775, rs3087243 and rs1883832 were statistically different between controls and GD (p < 0.05). Mutant allelic frequency of G rs231775 was higher, and A and T allelic frequencies of rs3087243 and rs1883832 were lower in GD than in controls (P < 0.05). In CTLA-4 rs1024161, rs5742909, rs231775, rs231777, rs231779, rs3087243 and rs11571319 showed D' < 50% and r2 < 0.3 among each SNP. We identified six commonly found haplotypes; TCGCTGC was associated with the highest GD risk (OR = 2.565) and TCACTAC the lowest (OR = 0.096). MDR analysis indicated interactions among the rs231775 GG, rs231779 TT and rs3087243 GG genotypes in CTLA-4 might increase GD risk by 2.53-fold (OR = 2.53)....Continue Reading

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Citations

Oct 4, 2018·Clinical Endocrinology·Laura C LaneAnna L Mitchell
Oct 1, 2019·International Journal of Genomics·Weihua SunMinglong Li
Jun 6, 2020·The Journal of Clinical Endocrinology and Metabolism·Laura Claire LaneAnna Louise Mitchell
Sep 19, 2020·PloS One·Muhammad Muaaz AslamM Ilyas Kamboh
Oct 31, 2020·Frontiers in Immunology·Ya XuBicheng Zhang
Jul 22, 2021·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Juan DuHongsong Yu

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Methods Mentioned

BETA
PCR
genotyping

Software Mentioned

SPSS

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