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Abstract #91555 Published in IGR 21-4
Association of gene polymorphisms with primary open angle glaucoma in Brazilian patients
Occhiutto ML; de Melo MB; Cabral de Vasconcellos JP; Rodrigues TAR; Bajano FF; Costa FF; Costa VPOphthalmic Genetics 2021; 42: 53-61
: Primary open-angle glaucoma (POAG) is a multifactorial disease that affects 65.5 million people worldwide. In addition to the genetic variants already established as indicators of greater risk for POAG, the apolipoprotein () gene has been studied in some populations, with controversial results. The aim of this study is to investigate the frequency of the genetic variants of in the Brazilian population, and to evaluate the association between these polymorphisms and the risk of POAG. : variants (rs429358; rs7412) were genotyped in 402 POAG patients and 401 controls. We evaluated the association between genetic variants and the risk for POAG, as well as the correlation between the requirement of glaucoma surgery and the polymorphisms. : Among the three gene isoforms, we found a low frequency of alleles ε2 (7.34%) and ε4 (11.76%), but a high frequency of ε3 (80.88%) in our population. When compared to ε3ε3 reference genotype, ε2 allele-carriers (OR = 1.516; -value = 0.04) and ε2ε3 genotype (OR = 1.655; -value = 0.02) were associated with a greater risk for POAG. An additive genetic model confirmed the influence of the ε2 allele in the risk of POAG in this sample of the Brazilian population (OR = 1.502; -value = 0.04). There was no significant association between the analyzed genotypes and the requirement or number of glaucoma surgeries ( > .05). : Brazilian individuals carrying the ε2 allele may be at an increased risk for the development of POAG.
Department of Ophthalmology, Faculty of Medical Sciences, University of Campinas - UNICAMP , Campinas, Brazil.
Full articleClassification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
