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

This study was aimed to replicate the previously reported associations of the three 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. In total, 932 particip...

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Bibliographic Details
Published in:Molecular vision 2021, Vol.27, p.262-269
Main Authors: Eliseeva, Natalya, Ponomarenko, Irina, Reshetnikov, Evgeny, Dvornyk, Volodymyr, Churnosov, Mikhail
Format: Article
Language:English
Subjects:
Alleles
Exfoliation
Gene polymorphism
Genetic diversity
Glaucoma
Haplotypes
LOXL1 gene
Single-nucleotide polymorphism
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Summary:This study was aimed to replicate the previously reported associations of the three 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. 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 gene (rs2165241, rs4886776, and rs893818). The association was analyzed using logistic regression. Allele C of rs2165241 was associated with a decreased risk of XFG (odds ratio [OR] =0.27-0.45, p ≤5*10 ) and POAG (OR=0.35-0.47, р ≤0.001), and allele A of rs4886776 and rs893818 were associated with a lower risk of XFG (OR=0.53-0.57, р ≤0.001). Haplotype TGG of loci rs2165241-rs4886776-rs893818 was associated with an elevated risk of XFG (OR=2.23, р =0.001) and POAG (OR=2.01, р =0.001), haplotype CGG was also associated with a decreased risk of XFG (OR=0.45, р =0.001) and POAG (OR=0.35, р =0.001). Haplotype CAA was associated with a decreased risk of XFG only (OR=0.50, р =0.001). Polymorphisms rs2165241, rs4886776, and rs893818 of the gene showed association with XFG and POAG in a Caucasian sample from central Russia.
ISSN:1090-0535
1090-0535