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Ting Chen, Yong Zhong, Jin Ma, Guangliang Shan; Interaction between polymorphisms of Atonal Homolog 7, Endothelin-1 and Angiotensin Converting Enzyme and environment in Non-arteritic anterior ischemic optic neuropathy. Invest. Ophthalmol. Vis. Sci. 201657(12):.
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The exact pathogenesis of non-arteritic anterior ischemic optic neuropathy (NAION) is unknown yet. Several risk factors have been complicated, such as diabete mellitus (DM), hypertension and disc-at-risk. Previous study showed that Atonal Homolog 7 (ATOH7) gene is highly associated with different optic nerve head parameters; both Endothelin (ET)-1 and Angiotensin Converting Enzyme (ACE) genes are associated with DM and hypertension. We performed a prospective, case-control study to investigate the role of genetic polymorphisms in the pathogenesis of NAION, and the combined effects of gene-gene and gene-environment in NAION.
Seventy-one consecutive NAION patients (mean age=54.86 ± 10.07 years; 66.20% males) were recruited from October 2013 to September 2015. And 1:2 age- and sex- matched healthy controls (mean age= 55.08 ± 10.36 years; 66.20% males) from China National Health Survey were included. The genetic polymorphisms of ATOH7, ET-1 and ACE were identified by polymorphism polymerase chain reaction. Conditional multivariate logistic regression was applied to assess the associations between variants in candidate genes and NAION, as well as the gene-gene and gene-environment interactions in the development of NAION.
A significant high risk was found in the T allele of ATOH7 in NAION, with an odds ratio (OR) of 1.55 (95% confidence interval (CI) =1.02-2.36, P=0.04). In the conditional logistic regression analysis, ATOH7 TT genotype carriers conferred a significantly increased risk of developing NAION as compared with carries of other genotypes (CC or CT) in the recessive model (OR=3.89, 95% CI=1.28-11.80, P=0.02). Combined analysis showed that people with ATOH7-TT/ET-1-GG had 19.64 times higher risk of NAION than individuals with ATOH7-CC/ET-1-GG (95 % CI=1.50-266.54, P=0.02). A positive correlation between hypertension and ATOH7 TT was found in NAION patients (P=0.008). ET-1 GG +GT carriers with DM had 3.72 times higher risk of NAION than carries with non-DM (P=0.008).
Our results showed that the polymorphism of ATOH7 conferred a significant risk of NAION. Combination of ATOH7 TT and hypertension, ATOH7 and ET-1, as well as combination of ET-1 GG+GT and DM, increased the susceptibility of NAION. Our data may be useful for NAION prevention and predicting.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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