Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil

Author(s)

Nunes, Hugo Freire ^[1] ; Ananina, Galina ^[1] ; Costa, Vital Paulino ^[2] ; Tonin Zanchin, Nilson Ivo ^[3] ; Cabral de Vasconcellos, Jose Paulo ^[2] ; de Melo, Monica Barbosa ^[1]

Affiliation

^[1] Univ Estadual Campinas, UNICAMP, Ctr Mol Biol & Genet Engn CBMEG, Lab Human Genet, POB 6010, BR-13083875 Campinas, SP - Brazil

^[2] Univ Estadual Campinas, UNICAMP, Fac Med Sci, Dept Ophthalmol, Campinas, SP - Brazil

^[3] Fundacao Oswaldo Cruz, Carlos Chagas Inst, Curitiba, PR - Brazil

• Document type: Journal article
• Source: OPHTHALMIC GENETICS; v. 39, n. 2, p. 194-199, 2018.
• Web of Science Citations: 3

Abstract

Large-scale genome-wide association studies have identified several susceptibility variants associated with the risk of primary open-angle glaucoma (POAG), among which rs4236601 (CAV1/CAV2) at chromosome 7q31 and rs2157719 at chromosome 9p21 (CDKN2B-AS1). The purpose of this study was to investigate whether these variants contribute to the incidence of POAG in a sample of the Brazilian Southeastern population and to determine the best-fitted genetic model for these single nucleotide polymorphisms (SNPs). A case-control study with 557 individuals, 310 with POAG, and 247 controls was conducted through PCR and direct sequencing. We observed a significant effect of the heterozygous genotype (G/A) of rs2157719 that occurred more frequently in the control group (p = 0.0004; OR: 0.517, CI 95%: 0.357-0.745). Allele frequencies also differed between cases and controls (p = 0.006; OR: 0.694, CI 95%: 0.522-0.922) with the best-fitted genetic model for rs2157719 being the codominant model. No differences were observed for genotype and allele distributions in relation to rs4236601 in the CAV1/CAV2 region. The association of rs2157719 (CDKN2B-AS1) with the POAG phenotype corroborates previously published results, reinforcing the importance of this variant in POAG etiology. (AU)

• FAPESP's process: 10/18353-9 - Inflammatory cytokines and their association with treatment and etiology of primary open angle glaucoma
• Grantee: Mônica Barbosa de Melo
• Support Opportunities: Regular Research Grants
• FAPESP's process: 11/04073-7 - Genetics aspects of primary open-angle glaucoma(POAG)in the brazilian population
• Grantee: Hugo Freire Nunes
• Support Opportunities: Scholarships in Brazil - Doctorate