Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Apr 18;14(1):8972.
doi: 10.1038/s41598-024-58442-8.

Exploring the role of apolipoprotein E gene promoter polymorphisms in susceptibility to normal-tension glaucoma in a Korean population

Young Jun Park #  1 , Hye-Young Shin #  2   3 , Jong-Il Kim  4   5   6
Affiliations

Exploring the role of apolipoprotein E gene promoter polymorphisms in susceptibility to normal-tension glaucoma in a Korean population

Young Jun Park et al. Sci Rep. .

Abstract

Glaucoma, particularly primary open-angle glaucoma (POAG), poses a significant global health concern. Distinguished by intraocular pressure (IOP), POAG encompasses high-tension glaucoma (HTG) and normal-tension glaucoma (NTG). Apolipoprotein E (APOE) is a multifaceted protein with roles in lipid metabolism, neurobiology, and neurodegenerative diseases. However, controversies persist regarding the impact of APOE single-nucleotide polymorphisms (SNPs) on open-angle glaucoma and NTG. This study aimed to identify APOE-specific SNPs influencing NTG risk. A cohort of 178 patients with NTG recruited from Uijeongbu St. Mary's Hospital and 32,858 individuals from the Korean Genome and Epidemiology Study (KoGES) cohort were included in the analysis. Genotype and haplotype analyses were performed on three promoter SNPs (rs449647, rs769446, and rs405509) and two exonic SNPs (rs429358 and rs7412) located on chromosome 19. Among the five SNPs, rs769446 genotypes exhibited significant differences between cases and controls. The minor allele C of rs769446 emerged as a protective factor against NTG. Furthermore, haplotype analysis of the five SNPs revealed that the A-T-G-T-T haplotype was a statistically significant risk factor for NTG. This study indicated an association between APOE promoter SNPs and NTG in the Korean population. Further studies are required to understand how APOE promoter SNPs contribute to NTG pathogenesis.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
Gene structure of single-nucleotide polymorphisms (SNPs) in the apolipoprotein E (APOE) gene locus.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Resnikoff S, et al. Global data on visual impairment in the year 2002. Bull. World Health Organ. 2004;82:844–851. - PMC - PubMed
    1. Rudnicka AR, Mt-Isa S, Owen CG, Cook DG, Ashby D. Variations in primary open-angle glaucoma prevalence by age, gender, and race: A Bayesian meta-analysis. Investig. Ophthalmol. Vis. Sci. 2006;47:4254–4261. doi: 10.1167/iovs.06-0299. - DOI - PubMed
    1. Kim, C. S., Seong, G. J., Lee, N. H., Song, K. C. & Namil Study Group, K. G. S. Prevalence of primary open-angle glaucoma in central South Korea the Namil study. Ophthalmology118, 1024-1030. 10.1016/j.ophtha.2010.10.016 (2011). - PubMed
    1. Janssen SF, et al. The vast complexity of primary open angle glaucoma: Disease genes, risks, molecular mechanisms and pathobiology. Prog. Retin. Eye Res. 2013;37:31–67. doi: 10.1016/j.preteyeres.2013.09.001. - DOI - PubMed
    1. Ray K, Mookherjee S. Molecular complexity of primary open angle glaucoma: Current concepts. J. Genet. 2009;88:451–467. doi: 10.1007/s12041-009-0065-3. - DOI - PubMed