Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population
Abstract Background 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. Methods SNP were genotyped by high resolution melting (HRM). Use the method of Pearson χ2 test...
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| Format: | Article |
| Language: | English |
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BMC
2018-09-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://link.springer.com/article/10.1186/s12881-018-0665-y |
| _version_ | 1818728489455452160 |
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| author | Xiaoming Chen Zhuoqing Hu Meilian Liu Huaqian Li Chanbo Liang Wei Li Liwen Bao Manyang Chen Ge Wu |
| author_facet | Xiaoming Chen Zhuoqing Hu Meilian Liu Huaqian Li Chanbo Liang Wei Li Liwen Bao Manyang Chen Ge Wu |
| author_sort | Xiaoming Chen |
| collection | DOAJ |
| description | Abstract Background 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. Methods 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. Results 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 r 2 < 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). Conclusion CTLA-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. |
| first_indexed | 2024-12-17T22:30:48Z |
| format | Article |
| id | doaj.art-885feae131934892ae648597a265a82b |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-17T22:30:48Z |
| publishDate | 2018-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-885feae131934892ae648597a265a82b2022-12-21T21:30:12ZengBMCBMC Medical Genetics1471-23502018-09-011911910.1186/s12881-018-0665-yCorrelation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han populationXiaoming Chen0Zhuoqing Hu1Meilian Liu2Huaqian Li3Chanbo Liang4Wei Li5Liwen Bao6Manyang Chen7Ge Wu8Department of Endocrinology, Affiliated Hospital of Guangdong Medical UniversityDepartment of Endocrinology, Affiliated Hospital of Guangdong Medical UniversityDepartment of Endocrinology, Affiliated Hospital of Guangdong Medical UniversityDepartment of Endocrinology, Affiliated Hospital of Guangdong Medical UniversityDepartment of Endocrinology, Affiliated Hospital of Guangdong Medical UniversityDepartment of Endocrinology, Affiliated Hospital of Guangdong Medical UniversityDepartment of Endocrinology, Affiliated Hospital of Guangdong Medical UniversityDepartment of Endocrinology, Affiliated Hospital of Guangdong Medical UniversityDepartment of Endocrinology, Affiliated Hospital of Guangdong Medical UniversityAbstract Background 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. Methods 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. Results 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 r 2 < 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). Conclusion CTLA-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.http://link.springer.com/article/10.1186/s12881-018-0665-yGraves’ diseaseCD40CTLA-4Genetic polymorphism |
| spellingShingle | Xiaoming Chen Zhuoqing Hu Meilian Liu Huaqian Li Chanbo Liang Wei Li Liwen Bao Manyang Chen Ge Wu Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population BMC Medical Genetics Graves’ disease CD40 CTLA-4 Genetic polymorphism |
| title | Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population |
| title_full | Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population |
| title_fullStr | Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population |
| title_full_unstemmed | Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population |
| title_short | Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population |
| title_sort | correlation between ctla 4 and cd40 gene polymorphisms and their interaction in graves disease in a chinese han population |
| topic | Graves’ disease CD40 CTLA-4 Genetic polymorphism |
| url | http://link.springer.com/article/10.1186/s12881-018-0665-y |
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