title: Rs3761389 polymorphism in autoimmune regulator (AIRE) gene is associated with susceptibility of myasthenia gravis in Chinese patients.
abstract: Polymorphism in autoimmune regulator (AIRE) gene is associated with various autoimmune disorders. Abnormal AIRE expression is associated with the development of myasthenia gravis (MG). We investigated the association of polymorphism in AIRE gene and the clinical features and severity of MG. The frequencies of alleles and genotypes were compared between 480MG patients and 487 healthy controls, as well as among subgroups of MG patients. The frequencies of rs3761389G allele in MG group (OR=1.213, CI 95% 1.014-1.451, p=0.035) and in mild (Oosterhuis score 0-2) subgroup (OR=1.393, CI 95% 1.110-1.751, p=0.004) were significantly higher than those in the control group. There were significant differences in the frequencies of rs3761389 genotypes (OR=1.20, CI 95% 1.00-1.43, p=0.046, log-additive model) and mild subgroup (OR=1.32, CI 95% 1.03-1.69, p=0.0058, log-additive model) compared with the control group. A Logistic regression analysis did not identify rs3761389 genotype as an independent risk factor to predict the severity of MG. This study provides the necessary preliminary data on the association with rs3761389 in AIRE gene with the susceptibility of MG, but not with the severity of MG.
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, No.16 Jiangsu Road, Qingdao 266003, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Qilu Hospital of Shandong University, No.107 Wenhua West Road, Jinan 250012, China.
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Ding
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, No.16 Jiangsu Road, Qingdao 266003, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Department of Neurology, Qilu Hospital of Shandong University, No.107 Wenhua West Road, Jinan 250012, China.
authors.forename: Yao-Xian
authors.initials: YX
authors.lastname: Yue
authors.affiliation: Department of Neurology, Beijing Friendship Hospital, Capital Medical University, No.95 Yongan Road, Beijing 100050, China.
authors.forename: Yanchen
authors.initials: Y
authors.lastname: Xie
authors.affiliation: Department of Neurology, Peking University First Hospital, No.8 Xishiku Street, Beijing 100034, China.
authors.forename: Hong-Jun
authors.initials: HJ
authors.lastname: Hao
authors.affiliation: Department of Neurology, Qilu Hospital of Shandong University, No.107 Wenhua West Road, Jinan 250012, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Liang
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, No.16 Jiangsu Road, Qingdao 266003, China.
authors.forename: Xian-Jun
authors.initials: XJ
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Qilu Hospital of Shandong University, No.107 Wenhua West Road, Jinan 250012, China.
authors.forename: Min
authors.initials: M
authors.lastname: Song
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, No.16 Jiangsu Road, Qingdao 266003, China.
authors.forename: Zhe
authors.initials: Z
authors.lastname: Gao
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, No.16 Jiangsu Road, Qingdao 266003, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Jiang
authors.affiliation: Department of Neurology, Affiliated Hospital of Qingdao University, No.16 Jiangsu Road, Qingdao 266003, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Qin
authors.affiliation: Department of Neurology, Qilu Hospital of Shandong University, No.107 Wenhua West Road, Jinan 250012, China. Electronic address: drlhf@163.com.
authors.forename: Hai-Feng
authors.initials: HF
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009157:Myasthenia Gravis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein
keywords: Autoimmune regulator; Myasthenia gravis; Polymorphism; Severity; Susceptibility