title: Correlation ofHLA-DQandTNF-αgene polymorphisms with ocular myasthenia gravis combined with thyroid-associated ophthalmopathy.
abstract: The present study aims to explore the correlation of human leucocyte antigen (HLA)-DQand tumour necrosis factor (TNF)-αgene polymorphisms with ocular myasthenia gravis (OMG) combined with thyroid-associated ophthalmopathy (TAO). From March 2009 to March 2015, 56 OMG patients complicated with TAO (OMG + TAO group), 134 patients diagnosed with OMG only (OMG group) and 236 healthy individuals (control group) were enrolled in the present study. PCR-sequence specific primer (PCR-SSP) was used forHLA-DQgenotyping and PCR-restriction fragment length polymorphism (PCR-RFLP) forTNF-αgenotyping. ELISA kit was applied to detect acetylcholine receptor antibody (AchRAb) level and chemiluminescence immunoassay (CLIA) to measure thyroid-associated antibody (T-Ab) level. Logistic regression analysis was carried out to analyse the risk factors for OMG combined with TAO. DQA1*0103 showed lower frequency in the OMG group than in the control group. DQA1*0301 showed increased and DQB1*0601 showed decreased frequency in the OMG + TAO group. DQB1*0501 showed higher frequency in the OMG and OMG + TAO groups than in the control group. Patients carryingTNF-α-863C > A (CA + AA) might confront with greater risks of OMG combined with TAO. Frequency of DQA1*0103/*0301 and DQB1*0501/*0601, andTNF-α-863C > A, -238G > A and -308G > A were associated with the levels of AchRAb and T-Ab.TNF-α-863C > A (CA + AA) and high level of T-Ab were risk factors for OMG combined with TAO. Our results demonstrate thatTNF-α-863 polymorphism is possibly correlated with the risk of OMG combined with TAO.
authors.affiliation: Geriatric Ward of Neurology, Tianjin Geriatrics Institute, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
authors.forename: Hong-Wei
authors.initials: HW
authors.lastname: Yang
authors.affiliation: Department of Endocrinology and Metabolism, The First Affiliated Hospital of Jinan University, Shipai, Guangzhou 510630, P.R. China.
authors.forename: Ying-Xue
authors.initials: YX
authors.lastname: Wang
authors.affiliation: Department of Rehabilitation Medicine, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
authors.forename: Jie
authors.initials: J
authors.lastname: Bao
authors.affiliation: Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.
authors.forename: Shu-Hui
authors.initials: SH
authors.lastname: Wang
authors.affiliation: Geriatric Ward of Neurology, Tianjin Geriatrics Institute, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China yanghawk74@126.com leipingtmu@sina.com.
authors.forename: Ping
authors.initials: P
authors.lastname: Lei
authors.affiliation: Department of Neurology, Affiliated Hospital of Medical College, Qingdao University, Qingdao 266000, P.R. China.
authors.forename: Zhao-Lin
authors.initials: ZL
authors.lastname: Sun
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D015415:Biomarkers / Q000097:blood; D005260:Female; D005838:Genotype; D049970:Graves Ophthalmopathy / Q000097:blood / Q000235:genetics* / Q000276:immunology; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008297:Male; D009157:Myasthenia Gravis / Q000097:blood / Q000235:genetics* / Q000276:immunology; D011110:Polymorphism, Genetic; D011978:Receptors, Nicotinic / Q000097:blood; D012307:Risk Factors; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D015415:Biomarkers; C539275:CHRNG protein, human; D006683:HLA-DQ Antigens; D011978:Receptors, Nicotinic; C439524:TNF protein, human; D014409:Tumor Necrosis Factor-alpha
keywords: Antibody; Gene polymorphism; HLA-DQ; Ocular myasthenia gravis; TNF-α; Thyroid associated ophthalmopathy