Abstract
The present study aims to explore the correlation of human leucocyte antigen (HLA)-DQ and tumour necrosis factor (TNF)-α gene 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 for HLA-DQ genotyping and PCR-restriction fragment length polymorphism (PCR-RFLP) for TNF-α genotyping. 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 carrying TNF-α -863C > A (CA + AA) might confront with greater risks of OMG combined with TAO. Frequency of DQA1*0103/*0301 and DQB1*0501/*0601, and TNF-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 that TNF-α -863 polymorphism is possibly correlated with the risk of OMG combined with TAO.
Highlights
Myasthenia gravis (MG) is an autoimmune disease resulting from an immunological response against the acetylcholine receptor (AChR) at the neuromuscular junction, leaving the voluntary muscles weak [1]
As the human leucocyte antigen (HLA)-DQ gene has been shown as a genetic marker for resistance to autoimmune thyroid diseases [20] and tumour necrosis factor (TNF)-α receptor blockers are involved in MG [21], we hypothesized that HLA-DQ and TNF-α gene polymorphisms may be a promising genetic target of ocular MG (OMG) combined with thyroid-associated ophthalmopathy (TAO)
DQB1*0601 frequency was significantly reduced in the OMG + TAO group (OR =0.110, 95% confidence interval (95% CI) =0.009–1.347; P
Summary
Myasthenia gravis (MG) is an autoimmune disease resulting from an immunological response against the acetylcholine receptor (AChR) at the neuromuscular junction, leaving the voluntary muscles weak [1]. With an overall prevalence of 12 cases per 100000, ocular MG (OMG) shares the very same process with MG and affects almost half of MG patients, but its symptoms are restricted to the extraocular and levator palpebrae muscles, which take the form of diplopia and ptosis [2]. Graves’ disease (GD) is a common autoimmune thyroid disorder and thyroid-associated ophthalmopathy (TAO) can affect 30–50% of GD patients and is characterized as orbital inflammation and expansion of fat and extraocular muscles [4]. There is no standard method for the treatment of OMG combined with TAO
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