The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

Li, Du; Yang, Jiqiao; Huang, Jingsheng; Wang, Haichuan; Xiong, Tingting; Xiang, Zhangpeng; Zhang, Yonggang; Huang, Junping

doi:10.1186/1471-2350-14-46

Cited by 27 publications

(13 citation statements)

References 26 publications

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“…We found that the T allele occurs with greater frequency in brucellosis patients than in controls, indicating it is a risk factor for this disease. This finding is in accordance with several studies, which have shown associations between this variation and risk of COPD , Graves disease , autoimmune type 1 diabetes , acute anterior uveitis and multi‐factorial autoimmune diseases . However, this association was not found for Behcet disease , RA , and systemic lupus erythematosus .…”

Section: Discussionsupporting

confidence: 92%

Investigation of CTLA‐4 and CD86 gene polymorphisms in Iranian patients with brucellosis infection

Eskandari-Nasab

Moghadampour

Najibi

et al. 2014

Microbiology and Immunology

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The protective immune response against Brucella involves T-cell-mediated immunity. T-lymphocyte receptors, CD28 and cytotoxic T-lymphocyte-associated protein-4 (CTLA-4), bind the same ligands, CD80 (B7-1) and CD86 (B7-2) on antigen-presenting cells and regulate T cell activation. CD28 delivers stimulatory signals whereas CTLA-4 provides inhibitory signals for T cell activation. Here, we investigated the association of four polymorphisms in CTLA4 (þ49A/G [rs231775] and À318 C/T [rs5742909]) and its ligand CD86 (þ1057 G/A [rs1129055] and þ2379G/C [rs17281995]) with brucellosis infection. The study included 153 Iranian patients with active brucellosis and 128 healthy individuals as the control group. Genotyping of the CTLA4 and CD86 variants was performed using tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) and PCRrestriction fragment length polymorphism analysis, respectively. It was found that the CTLA4 À318 CT genotype and T allele were present more frequently in cases than in controls and are therefore associated with an increased risk for brucellosis (À318 TT genotype; OR ¼ 2.544, P ¼ 0.002). Likewise, the CD86 þ1057 GA and AA genotypes and A allele were associated with an increased risk of brucellosis (þ1057 AA genotype; OR ¼ 3.81, P ¼ 0.001). However, no statistically significant difference between brucellosis patients and controls in the allele and genotype distributions of CTLA4, þ49A/G (P ¼ 0.859) and CD86, þ2379G/C (P ¼ 0.476) was found. In conclusion, CTLA4 À318 CT genotype and Tallele and the CD86 þ057 GA and AA genotypes and A allele play roles as risk factors for developing brucellosis infection in Iran.

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Section: Discussionsupporting

confidence: 92%

Investigation of CTLA‐4 and CD86 gene polymorphisms in Iranian patients with brucellosis infection

Eskandari-Nasab

Moghadampour

Najibi

et al. 2014

Microbiology and Immunology

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“…Except for HLA , CTLA-4 and CD40 are apparently the most popular susceptibility genes in autoimmune diseases. Meta-analysis has confirmed correlations between the CD40 –1C/T(rs1883832), +49A/G(rs231775) and CT60(rs3087243) polymorphisms and the risk of GD [21, 22]. In this study, our results showed that CD40 –1C/T(rs1883832), +49A/G(rs231775) and CT60(rs3087243) polymorphisms were associated with GD risk, but no such correlations were observed in other commonly seen SNPs.…”

Section: Discussionsupporting

confidence: 54%

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

Chen

Liu

et al. 2018

BMC Med Genet

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BackgroundSingle-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.MethodsSNP 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.ResultsGenotypic 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).ConclusionCTLA-4 and CD40 were associated with GD incidence in a Chinese Han population. The TCGCTGC and TCACTAC haplotypes in the CTLA-4 gene, were risk and protective factors for Graves’disease respectively. Interactions among the SNPs of rs231775, rs231779 and rs3087243 significantly increase the susceptibility to GD.

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“…It is plausible that abnormal expression of these co-signaling molecules plays a key role in the pathogeneses of autoimmune diseases including GD (Wang et al, 2013a(Wang et al, , 2009. Single nucleotide polymorphisms (SNPs) in the CTLA4 and CD40 genes had been widely demonstrated to be associated with GD in different populations by linkage analysis (Tomer et al, 2003), candidate gene association studies (Yang et al, 2012), genome-wide association studies (GWAS) (Chu et al, 2011;Wang et al, 2013b) and meta-analysis (Du et al, 2013;Li et al, 2012). A recent GWAS in China detected more susceptibility genes for GD within the entire genome, but these accounted for only about 10% of heritability, when, in fact, genetic factors contribute about 70%-80% to the development of GD (Simmonds, 2013).…”

Section: Introductionmentioning

confidence: 99%

Synergistic combined effect between CD40-1C>T and CTLA-4+6230G>A polymorphisms in Graves' disease

Chen

et al. 2015

Gene

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The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

Cited by 27 publications

References 26 publications

Investigation of CTLA‐4 and CD86 gene polymorphisms in Iranian patients with brucellosis infection

Investigation of CTLA‐4 and CD86 gene polymorphisms in Iranian patients with brucellosis infection

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

Synergistic combined effect between CD40-1C>T and CTLA-4+6230G>A polymorphisms in Graves' disease

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