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Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil.
Nunes, Hugo Freire; Ananina, Galina; Costa, Vital Paulino; Zanchin, Nilson Ivo Tonin; de Vasconcellos, José Paulo Cabral; de Melo, Mônica Barbosa.
Afiliación
  • Nunes HF; a Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG , University of Campinas - UNICAMP , Campinas , SP , Brazil.
  • Ananina G; a Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG , University of Campinas - UNICAMP , Campinas , SP , Brazil.
  • Costa VP; b Department of Ophthalmology, Faculty of Medical Sciences , University of Campinas - UNICAMP , Campinas , SP , Brazil.
  • Zanchin NIT; c Oswaldo Cruz Foundation , Carlos Chagas Institute , Curitiba , PR , Brazil.
  • de Vasconcellos JPC; b Department of Ophthalmology, Faculty of Medical Sciences , University of Campinas - UNICAMP , Campinas , SP , Brazil.
  • de Melo MB; a Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering - CBMEG , University of Campinas - UNICAMP , Campinas , SP , Brazil.
Ophthalmic Genet ; 39(2): 194-199, 2018 04.
Article en En | MEDLINE | ID: mdl-29111846
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glaucoma de Ángulo Abierto / Polimorfismo de Nucleótido Simple / Caveolina 1 / Caveolina 2 / ARN Largo no Codificante Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glaucoma de Ángulo Abierto / Polimorfismo de Nucleótido Simple / Caveolina 1 / Caveolina 2 / ARN Largo no Codificante Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido