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Vitamin D receptor gene polymorphisms are associated with the risk and features of myasthenia gravis in the Han Chinese population

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机构: [1]Capital Med Univ, Beijing Tongren Hosp, Natl Inst Drug Clin Trial, 1 Dongjiaominxiang Rd, Beijing 100730, Peoples R China
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关键词: Myasthenia gravis Vitamin D receptor Gene polymorphisms Disease susceptibility

摘要:
Vitamin D receptor gene (VDR) polymorphisms are candidate genetic variants for susceptibility to autoimmune diseases. Here, we explored the association between VDR polymorphisms and myasthenia gravis (MG) susceptibility and disease features in a Han Chinese population. A total of 151 patients with MG and 146 healthy controls were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms using the improved multiple ligase detection reaction. Information regarding age at onset, acetylcholine receptor (AChR-Ab) and muscle-specific kinase (MuSK-Ab) antibody status, thymus status, involved muscles at onset, and Osserman type at maximum worsening during 2-year follow-up was obtained and used for subclassification grouping. Intergroup comparisons of allele and genotype frequencies and haplotype distributions were performed between the MG and control groups and between each pair of MG subgroups. The VDR rs7975232 polymorphism was associated with the risk of MG in allele, codominant (CC vs. CA), and dominant models (p = 0.040, p = 0.018, and p = 0.018, respectively). Moreover, subjects with the ACC haplotype (order of rs731236, rs7975232, rs1544410) were more likely to develop MG than those with other haplotypes (OR = 1.486, 95% CI: 1.017-2.171, p = 0.040). In a dominant model, the rs7975232 CC genotype frequency was significantly higher in the ocular MG group than in the generalized MG group (p = 0.019). The study findings suggest that the VDR rs7975232 C allele and the ACC haplotype can be associated to an increased susceptibility to the development of MG. Trial registration: NCT05380128.

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基金编号: Z191100007619038

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出版当年[2022]版:
大类 | 4 区 医学
小类 | 4 区 免疫学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 免疫学
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出版当年[2021]版:
Q3 IMMUNOLOGY
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Q3 IMMUNOLOGY

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第一作者机构: [1]Capital Med Univ, Beijing Tongren Hosp, Natl Inst Drug Clin Trial, 1 Dongjiaominxiang Rd, Beijing 100730, Peoples R China
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