Abstract
Our study was designed to investigate the relationship of the POAG (primary open angle glaucoma) risk with the XRCC1 SNPs (single nucleotide polymorphisms) and other gene–diabetes interactions and haplotype combinations. HWE (Hardy–Weinberg equilibrium) test and GMDR for the best haplotype interaction of four SNPs in XRCC1 gene and diabetes were assessed. Logistic regression analysis revealed that rs25487-A and rs861539-C allele, with adjusted ORs (95% CI) of 1.60 (1.19–2.02) and 1.62 (1.20–2.08), respectively, were the associated risk factors with increased POAG. GMDR test indicated that testing accuracy of two-locus model (including rs25487 and T2DM) was 62.11% (P < 0.01). Therefore, regardless of how the data are partitioned, the highest cross-validation consistency across the multidimensional model is showed by this best model. The analysis indicated that T2DM influenced the POAG risk depending on the genotypes at rs25487. Pairwise LD analysis suggested that the haplotype G-G was the most common in the POAG patients (49.45%) and in the controls (55.78%), respectively. The results showed that haplotype A-A significantly correlated with a higher POAG risk. The re25487-A and rs861539-c and the interaction of between rs25487 and T2DM and the haplotype A-A were all associated with higher POAG risk.
Impact statement
Some studies have suggested that diabetes and XRCC gene may be risk factors for glaucoma; however, no studies have focused on the interaction between the XRCC gene and T2DM with respect to POAG risk. Therefore, the present study evaluated the initiative gene–environment interactions in POAG.
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