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Association between CTLA-4 gene polymorphism and myasthenia gravis in a Chinese cohort

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机构: [a]Department of Neurology, Affiliated Hospital of Jining Medical College, No. 89 Guhuai Road, Jining 272000, China [b]Department of Respiratory and Critical Care Medicine, Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Qingdao 266003, China [c]Department of Neurology, Qilu Hospital of Shandong University, No. 107 Wenhua West Road, Jinan 250012, China [d]Department of Neurology, Beijing Friendship Hospital, Capital Medical University, No. 95 Yongan Road, Beijing 100050, China [e]Department of Neurology, Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Qingdao 266003, China [f]Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Beijing 100034, China [g]Department of Neurology, Xuanwu Hospital, Capital Medical University, No. 45, Changchun Street, Beijing 100053, China
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关键词: Cytotoxic T lymphocyte associated antigen-4 Myasthenia gravis Polymorphism Severity Susceptibility

摘要:
Abnormal CTLA-4 expression is involved in the development of myasthenia gravis (MG), and serum CTLA-4 levels are positively correlated with serum anti-AChR antibody concentration, which might be related with the severity of MG. Polymorphism in CTLA-4 gene is associated with various autoimmune disorders. We investigated the association of polymorphism in CTLA-4 gene with the clinical variables and severity of MG. The frequencies of alleles and genotypes were compared between 480 MG patients and 487 healthy controls, as well as among subgroups of MG patients. The frequency of rs733618*C allele is significantly higher in MG group and several subgroups than in control group. Genotype is not found as independent factor for essential clinical variables of MG. The frequency of rs231775*A allele is significantly lower in ocular onset subgroup than in control group, and the frequencies of rs231775*A allele and rs3087243*A allele are significantly lower in ocular onset subgroup than in generalized onset subgroup. Genotypes of the two SNPs are found as independent factors for ocular onset. The frequency of rs231775*A allele is significantly lower in mild subgroup than that in control group. Genotype is not found as independent factor for mild severity. A haplotype containing rs733618*C, rs231775*G and rs3087243*G is identified to increase the general risk of MG by 1.278-fold and ocular onset MG subgroup by 1.362-fold. There is association of rs733618 with the general susceptibility of MG, and association of rs231775 and rs3087243 with the susceptibility of ocular onset MG, but no association with the severity of MG. © 2019 Elsevier Ltd

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出版当年[2018]版:
大类 | 4 区 医学
小类 | 4 区 临床神经病学 4 区 神经科学
最新[2023]版:
大类 | 4 区 医学
小类 | 4 区 临床神经病学 4 区 神经科学
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出版当年[2017]版:
Q4 NEUROSCIENCES Q4 CLINICAL NEUROLOGY
最新[2023]版:
Q3 CLINICAL NEUROLOGY Q4 NEUROSCIENCES

影响因子: 最新[2023版] 最新五年平均 出版当年[2017版] 出版当年五年平均 出版前一年[2016版] 出版后一年[2018版]

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第一作者机构: [a]Department of Neurology, Affiliated Hospital of Jining Medical College, No. 89 Guhuai Road, Jining 272000, China
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通讯机构: [g]Department of Neurology, Xuanwu Hospital, Capital Medical University, No. 45, Changchun Street, Beijing 100053, China
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