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Jesus Cabral, Beatriz Buentello, Dalia Guadarrama, Juan Zenteno, Celia Elizondo, Antonio Miranda; Association Study of Multiple Gene Polymorphisms with the Risk of Adult-Onset Primary Open-Angle Glaucoma in a Mexican Population. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6232.
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The purpose of this work was to investigate the association of multiple primary open-angle glaucoma (POAG) risk alleles in a Mexican population.
A total of 26 well-known associated alleles located in 11 different genes, including MYOC, CYP1B1, OPTN, IL-1A, TNF, OPA1, EDNRA, AGTR2, MTHFR, GSTM1, and GSTT1 were genotyped. Frequencies of these variants were compared in a group of 218 individuals (118 with POAG and 100 healthy controls). DNA was extracted from blood leukocytes, and genotyping was performed using PCR as well as direct sequencing. Comparisons of continuous variables were tested by Student’s t-test, and corrected chi-squared statistics were applied for categorical variables.
Individual SNP analysis showed that no specific variants are related to an elevated risk for developing POAG. Nevertheless, CG genotype for rs5335 polymorphism in EDNRA provides an estimated odds ratio of 0.5 (95% CI, 0.3-0.9; p=0.03), displaying a protective effect against the development of POAG. Moreover, the association with a protective effect against POAG of one haplotype, consisting of rs1056827 and rs100012 in CYP1B1 gene, was statistically significant (p=0.0045; OR=0.3; 95% CI, 0.1-0.7).
This is the first case-control study of POAG-risk alleles for multiple genes in a Latino population. Our results show a protective effect conferred by EDNRA rs5335, and a CYP1B1 haplotype consisting of rs1056827 and rs100012. This investigation emphasizes the importance of genotyping distinct POAG ethnic groups.
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