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

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  • معلومة اضافية
    • المصدر:
      Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
    • بيانات النشر:
      Publication: London : Informa Healthcare
      Original Publication: Buren, The Netherlands : Aeolus Press, c1994-
    • الموضوع:
      Polymorphism, Single Nucleotide*; Caveolin 1/*genetics ; Caveolin 2/*genetics ; Glaucoma, Open-Angle/*genetics ; RNA, Long Noncoding/*genetics; Adult ; Aged ; Aged, 80 and over ; Brazil ; Case-Control Studies ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Glaucoma, Open-Angle/diagnosis ; Humans ; Intraocular Pressure ; Male ; Middle Aged
    • نبذة مختصرة :
      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.
    • Contributed Indexing:
      Keywords: CAV1/CAV2; CDKN2B-AS1; POAG; caveolin; cyclin-dependent kinase; glaucoma; rs2157719; rs4236601
    • الرقم المعرف:
      0 (CAV1 protein, human)
      0 (CAV2 protein, human)
      0 (CDKN2B antisense RNA, human)
      0 (Caveolin 1)
      0 (Caveolin 2)
      0 (RNA, Long Noncoding)
    • الموضوع:
      Date Created: 20171108 Date Completed: 20190311 Latest Revision: 20210402
    • الموضوع:
      20250114
    • الرقم المعرف:
      10.1080/13816810.2017.1393830
    • الرقم المعرف:
      29111846