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
. 2021 Aug 16;12(8):1252.
doi: 10.3390/genes12081252.

LMX1B Locus Associated with Low-Risk Baseline Glaucomatous Features in the POAAGG Study

Elana Meer  1 , Vivian L Qin  2 , Harini V Gudiseva  2 , Brendan McGeehan  2 , Rebecca Salowe  2 , Maxwell Pistilli  2 , Jie He  2 , Ebenezer Daniel  2 , Gui Shang Ying  2 , Venkata R M Chavali  2 , Joan M O'Brien  2
Affiliations

LMX1B Locus Associated with Low-Risk Baseline Glaucomatous Features in the POAAGG Study

Elana Meer et al. Genes (Basel). .

Abstract

Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide and has been associated with multiple genetic risk factors. The LMX1B gene is a genetic susceptibility factor for POAG, and several single-nucleotide polymorphisms (SNPs) were shown to be associated with POAG in our own prior Primary Open-Angle African American Glaucoma Genetics (POAAGG) study genome-wide association study (GWAS). This study evaluated the association of the LMX1B locus with baseline optic disc and clinical phenotypic characteristics of glaucoma patients from our African American cohort. Compared to the GG genotype in SNP rs187699205, the GC genotype in this SNP was found to be significantly associated with a smaller cup-to-disc ratio (CDR) and increased (better) visual field mean deviation (MD) in glaucoma cases. None of the glaucoma cases with the GC genotype had disc hemorrhages, disc notching, or beanpot disc appearance. In conclusion, glaucoma phenotypes differed significantly by LMX1B variant in African American patients with POAG, and a SNP variant was associated with certain disease features considered lower risk.

Keywords: African American; LMX1B; genetic; glaucoma; primary open-angle glaucoma.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Weinreb R.N., Leung C.K.S., Crowston J.G., Medeiros F.A., Friedman D.S., Wiggs J.L., Martin K.R. Primary open-angle glaucoma. Nat. Rev. Dis. Prim. 2016;2:1711–1720. doi: 10.1038/nrdp.2016.67. - DOI - PubMed
    1. Tham Y.C., Li X., Wong T.Y., Quigley H.A., Aung T., Cheng C.Y. Global prevalence of glaucoma and projections of glaucoma burden through 2040: A systematic review and meta-analysis. Ophthalmology. 2014;121:2081–2090. doi: 10.1016/j.ophtha.2014.05.013. - DOI - PubMed
    1. Allingham R.R., Liu Y., Rhee D.J. The genetics of primary open-angle glaucoma: A review. Exp. Eye Res. 2009;88:837–844. doi: 10.1016/j.exer.2008.11.003. - DOI - PMC - PubMed
    1. Janssen S.F., Gorgels T.G.M.F., Ramdas W.D., Klaver C.C.W., van Duijn C.M., Jansonius N.M., Bergen A.A.B. 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. Choquet H., Wiggs J.L., Khawaja A.P. Clinical implications of recent advances in primary open-angle glaucoma genetics. Eye. 2020;34:29–39. doi: 10.1038/s41433-019-0632-7. - DOI - PMC - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources