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

Autor(es)

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]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: OPHTHALMIC GENETICS; v. 39, n. 2, p. 194-199, 2018.
• Citações Web of Science: 3

Resumo

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)

• Processo FAPESP: 10/18353-9 - Citocinas inflamatórias e associação com o tratamento e etiologia do glaucoma primário de ângulo aberto
• Beneficiário: Mônica Barbosa de Melo
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 11/04073-7 - Aspectos genéticos do glaucoma primário de ângulo aberto (gpaa) na população brasileira
• Beneficiário: Hugo Freire Nunes
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 02/11575-0 - Identificação de genes associados ao glaucoma primário de ângulo aberto
• Beneficiário: José Paulo Cabral de Vasconcellos
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores