Association of TNFAIP3 polymorphism with rheumatic heart disease in Chinese Han population |
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Authors: | Rong Hua Ji-bin Xu Jiu-cun Wang Li Zhu bing Li Yang Liu Sheng-dong Huang Li Jin Zhi-yun Xu Xiao-feng Wang |
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Affiliation: | 1. Department of cardiothoracic surgery, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China 2. State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, 220 Handan Rd, Shanghai, 200433, China 3. CMC Institute of Health Sciences, Taizhou, 225300, Jiangsu Province, China
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Abstract: | In a pair-matched case–control study (239 versus 478) conducted in Chinese Han population, we investigated the association between tumor necrosis factor-α-induced protein 3 (TNFAIP3) gene, tumor necrosis factor receptor-associated factor 1 (TRAF1) gene, complement component 5 (C5) gene, and rheumatic heart disease (RHD). We observed no association with RHD for the five tagging single nucleotide polymorphisms (tSNP) in the C5 gene, the three tSNPs in the TNFAIP3 gene, or the two tSNPs in the TRAF1 gene. However, we determined that the tSNP, rs582757, located at intron_5 of the TNFAIP3 gene, associated with RHD in Chinese Han population. Both the distribution of genotype and allele frequencies differed significantly between case and control subjects (p?=?0.001 and p?=?0.0004, respectively). The minor C allele reduced the risk of RHD with a per-allele odds ratio of 0.57 (0.42–0.78) for the additive model in univariate analysis (p?=?0.000). Under a dominant model, CC/CT carriers had a 0.54-fold reduced risk of RHD (95% confidence interval 0.38–0.75, p?=?0.000) than TT carriers. Therefore, we report a new genetic variant (rs582757) in the TNFAIP3 gene that associated with the prevalence of RHD in Chinese Han population. Further genetic and functional studies are required to identify the etiological variants in linkage disequilibrium with this polymorphism. |
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