Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort.

Autor: Rodrigues TAR; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG, University of Campinas - UNICAMP, Campinas, Brazil., de Souza BB; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG, University of Campinas - UNICAMP, Campinas, Brazil., Bertozzo VHE; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG, University of Campinas - UNICAMP, Campinas, Brazil., de Castro JNP; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG, University of Campinas - UNICAMP, Campinas, Brazil., Camargo ACL; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG, University of Campinas - UNICAMP, Campinas, Brazil., Costa FF; Hematology and Hemotherapy Center, University of Campinas-UNICAMP, Campinas, Brazil., Schimiti RB; Glaucoma Service, Hoftalon Hospital, Londrina, Brazil.; Department of Ophthalmology, Faculty of Medical Sciences, PUC Paraná, Londrina, Brazil., Costa VP; Department of Ophthalmology, Faculty of Medical Sciences - University of Campinas - UNICAMP, Campinas, Brazil., de Vasconcellos JPC; Department of Ophthalmology, Faculty of Medical Sciences - University of Campinas - UNICAMP, Campinas, Brazil., de Melo MB; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG, University of Campinas - UNICAMP, Campinas, Brazil.
Jazyk: angličtina
Zdroj: Ophthalmic genetics [Ophthalmic Genet] 2023 Jun; Vol. 44 (3), pp. 246-252. Date of Electronic Publication: 2023 Mar 30.
DOI: 10.1080/13816810.2023.2191704
Abstrakt: Background: Primary open-angle glaucoma (POAG), the world's main cause of irreversible blindness, is an asymptomatic and neurodegenerative disease of multifactorial etiology with ethnic and geographic disparities. Multiethnic genome-wide association studies (GWAS) identified single nucleotide variants (SNVs) in ATXN2, FOXC1 , and TXNRD2 loci as risk factors for POAG pathophysiology and/or endophenotypes. The aim of this case-control study was to investigate the association of the variants rs7137828 ( ATXN2 ), rs2745572 ( FOXC1 ), and rs35934224 ( TXNRD2 ), as risk factors for POAG development, additionally to rs7137828 association with glaucoma clinical parameters in a Brazilian cohort from the Southeast and South regions.
Methods: This investigation comprised 506 cases and 501 controls. Variants rs2745572 and rs35934224 were genotyped through TaqMan® assays and validated by Sanger sequencing. Variant rs7137828 was genotyped exclusively by Sanger sequencing.
Results: The primary research outcome revealed that the variant rs7137828 ( ATXN2 ) was associated with an increased risk for the development of POAG in the presence of the TT genotype compared to the CC genotype ( p  = 0.006; Odds Ratio [OR] = 1.717; Confidence Interval [CI] 95% = 1.169-2.535). There was no significant association of rs2745572 and rs35934224 genotypes with POAG. The CT genotype of the rs7137828 was associated with the vertical cup-to-disk ratio (VCDR) ( p  = .023) but not with the age at diagnosis or the mean deviation.
Conclusion: Our data indicate the rs7137828 associated with increased risk for the development of POAG and VCDR in a Brazilian cohort. If validated in additional populations, these findings may enable the development of relevant strategies for early diagnosis of glaucoma in the future.
Databáze: MEDLINE
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