Association between polymorphism of optic disc related genes and susceptibility to primary open angle glaucoma in Inner Mongolia

Objective

To evaluate the association between polymorphism of the optic disc related genes and primary open angle glaucoma (POAG) in Inner Mongolia.

Methods

A retrospective study was adopted.Pathography on 108 POAG patients was collected from six hospitals in Hohhot, Baotou city from January, 2014 to December, 2016 as POAG group.At the same time, 120 healthy persons were included as the control group.Fasting venous blood of 2 ml blood was collected by EDTA anticoagulant.Mass spectrometry was used to genotype the single nucleotide polymorphism (SNPs) of RFTN1 (rs690037), ATOH7 (rs7916697, rs3858145), CDC7 (rs1192415), CDKN2B (rs1063192) and SIX (rs10483727) in 108 patients with POAG and 120 normal controls.The association of gene polymorphism with POAG was analyzed by the χ² test and logistic regression analysis.The study protocol was approved by the Ethics Committee of Inner Mongolia Baogang Hospital, and written informed consent was obtained from each patient.

Results

The frequency of CDKN2B (rs1063192) G allele in the POAG group was significantly higher than that in the control group (27% VS.17%, odds ratio[OR]=1.824, 95% confidence interval [CI]: 1.163-2.861, P=0.008), whereas allele frequencies of the other 7 SNPs were not statistically different between the two groups (all at P>0.05). Additive and dominant models of rs1063192 indicated that the individual with G allele was more likely to suffer from POAG, with a significant difference (P<0.05), but A allele did not significantly reduce the risk of POAG (P>0.05). There was no significant difference in the distribution of other SNPs genotypes between the POAG group and the control group (P>0.05).

Conclusions

The polymorphism of CDKN2B (rs1063192) is associated with the susceptibility to POAG, and the minor G allele may increase the risk of POAG.