LOXL1 gene polymorphism candidates for exfoliation glaucoma are also associated with a risk for primary open-angle glaucoma in a Caucasian population from central Russia.

Purpose: This study was aimed to replicate the previously reported associations of the three LOXL1 gene polymorphisms with exfoliation glaucoma (XFG) and to analyze these genetic variants for their possible contribution to primary open-angle glaucoma (POAG) in Caucasians from central Russia.

Methods: In total, 932 participants were recruited for the study, including 328 patients with XFG, 208 patients with POAG, and 396 controls. The participants were of Russian ethnicity (self-reported) and born in Central Russia. They were genotyped at three single nucleotide polymorphisms (SNPs) of the LOXL1 gene (rs2165241, rs4886776, and rs893818). The association was analyzed using logistic regression.

Results: Allele C of rs2165241 was associated with a decreased risk of XFG (odds ratio [OR] =0.27-0.45, pperm ≤5*10-6 ) and POAG (OR=0.35-0.47, рperm ≤0.001), and allele A of rs4886776 and rs893818 were associated with a lower risk of XFG (OR=0.53-0.57, рperm ≤0.001). Haplotype TGG of loci rs2165241-rs4886776-rs893818 was associated with an elevated risk of XFG (OR=2.23, рperm =0.001) and POAG (OR=2.01, рperm =0.001), haplotype CGG was also associated with a decreased risk of XFG (OR=0.45, рperm =0.001) and POAG (OR=0.35, рperm =0.001). Haplotype CAA was associated with a decreased risk of XFG only (OR=0.50, рperm =0.001).

Conclusions: Polymorphisms rs2165241, rs4886776, and rs893818 of the LOXL1 gene showed association with XFG and POAG in a Caucasian sample from central Russia.