Título

TXNRD2 AND CDKN2B-AS1 GENE POLYMORPHISMS IN PATIENTS WITH PRIMARY OPEN-ANGLE GLAUCOMA

Objetivo

Recent studies have demonstrated association between single nucleotide polymorphisms (SNPs) in TXNRD2 and CDKN2B-AS1 genes and primary open angle glaucoma (POAG) in some populations.

Método

We performed a cross-sectional study to confirm the association between the rs35934224 (TXNRD2) and rs7866783 (CDKN2B-AS1) and POAG in a population from the northeast region of Brazil. A total of 191 individuals were enrolled, being 96 from glaucoma group (46 males and 50 females) and 95 from non-glaucoma group (41 males and 54 females) from the Recife Eye Institute. Mean age was 67,37 years for glaucoma group and 68,45 years for non-glaucoma. Glaucoma group was primarily made up of individuals with at least one reliable visual field showing vision loss consistent with glaucoma or progression of optic nerve degeneration documented by OCT-Spectralis, all of them with Cup-to-Disc ratio (CDR) ≥0.7. The non-glaucoma group had CDR <0.6, IOP <17 mmHg and family history negative for glaucoma. Genomic DNA was isolated using commercially available kits and detection of the SNPs was done by Real Time PCR using TaqMan probes. Differences in the frequency distribution between the groups were analyzed using the chi-squared test or Fisher’s exact test when appropriate.

Resultado

Individuals from glaucoma group had a higher frequency of the CC genotype (rs35934224) in the TXNRD2 gene than non-glaucoma (72,3% vs. 59,57%, p=0,045). The C allele presented similar distribution (84,45% vs. 78,57%, p=0.09). Regarding the (rs7866783) in the CDKN2B-AS1 gene, the GG genotype was more prevalent in individuals with POAG (71,8% vs. 64,21%, p=0.23). The G allele was equally distributed (83.37% vs. 80%, p=0.23).

Conclusão

In this study, we sugested the TXNRD2 (rs35934224) as a risk loci for POAG, but no association was observed between the CDKN2B-AS1 (rs7866783) with POAG in Brazilian patients. Further studies are needed to confirm these results in a larger cohort.