Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil
| العنوان: | Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil |
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| المؤلفون: | Galina Ananina, Nilson Ivo Tonin Zanchin, Vital Paulino Costa, Mônica Barbosa de Melo, José Paulo Cabral de Vasconcellos, Hugo Freire Nunes |
| المصدر: | Ophthalmic Genetics. 39:194-199 |
| بيانات النشر: | Informa UK Limited, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genotype, Open angle glaucoma, Caveolin 2, Caveolin 1, Population, Glaucoma, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Internal medicine, Genetic model, medicine, Humans, Genetic Predisposition to Disease, education, Allele frequency, Intraocular Pressure, Genetics (clinical), Aged, Genetic association, Aged, 80 and over, education.field_of_study, business.industry, Incidence (epidemiology), Middle Aged, medicine.disease, Ophthalmology, 030104 developmental biology, Case-Control Studies, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Female, RNA, Long Noncoding, business, Brazil, Glaucoma, Open-Angle, Genome-Wide Association Study |
| الوصف: | 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. |
| تدمد: | 1744-5094 1381-6810 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5070e45bb2a8e6163c76e25a498d795Test https://doi.org/10.1080/13816810.2017.1393830Test |
| رقم الانضمام: | edsair.doi.dedup.....e5070e45bb2a8e6163c76e25a498d795 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17445094 13816810 |
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