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Complement C3 polymorphism is associated with the susceptibility of myasthenia gravis in Chinese adult patients

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单位: [a]Department of Neurology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, 324 Jing Wu Road, Jinan, 250021, China [b]Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, 107 Wenhua West Road, Jinan, 250012, China [c]Department of Neurology, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266000, China [d]Department of Neurology, Shengli Oilfield Central Hospital, 31 Jinan Road, Dongying, 257034, China [e]Department of Neurology, Beijing Friendship Hospital, Capital Medical University, 95 Yongan Road, Xicheng District, Beijing, 100050, China [f]ICU, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266000, China [g]Laboratory of Neuroimmunology, Department of Neurology, Peking University First Hospital, 37 Xishiku Street, Xicheng District, Beijing, 100034, China
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关键词: Myasthenia gravis Susceptibility Complement component 3 Polymorphism

摘要:
Complement component 3 (C3) had been proved to be involved in the pathogenesis and exacerbation of both myasthenia gravis (MG) patients and experimental autoimmune myasthenia gravis (EAMG) models. We evaluated the underlying association between five SNPs (rs344555, rs7951, rs3745568, rs366510 and rs163913) in C3 gene and Chinese adult MG patients. Our study consisted of 409 adult MG patients and 487 healthy controls. Subgroups were classified by gender, onset age, thymoma, anti-AChR antibody, onset muscle involvement (ocular/generalized) and severity (Oosterhuis score at the maximal severity during the initial two years after the onset of MG). We found significant differences in allele frequencies between MG and the control group, between various MG subgroups and the control group in rs344555 and rs3745568. There were significant differences in genotype frequencies between MG group and the control group, between MG subgroups and the control group under the codominant and additive inheritance models in rs344555 and rs3745568. No association was found between the frequencies of these SNPs and the severity of MG. We also used a comprehensive classification which was close to the clinical scenario to minimize the interaction among clinical features. In rs344555, the T allele frequency in thymoma (-) AChR-Ab (+) subgroup was significantly higher than that in the control group. Our results indicated that rs344555 was associated with the susceptibility of Chinese adult MG patients; rs3745568 was probably associated with the susceptibility of Chinese adult MG patients. No association was found between the frequencies of these SNPs and the severity of MG.

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出版当年[2020]版:
大类 | 3 区 医学
小类 | 4 区 免疫学 4 区 神经科学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 免疫学 4 区 神经科学
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出版当年[2019]版:
Q2 NEUROSCIENCES Q3 IMMUNOLOGY
最新[2023]版:
Q2 NEUROSCIENCES Q3 IMMUNOLOGY

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第一作者单位: [a]Department of Neurology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, 324 Jing Wu Road, Jinan, 250021, China [b]Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, 107 Wenhua West Road, Jinan, 250012, China
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