Plexin Domain Containing 2 (PLXDC2) Gene Polymorphism Rs7081455 May Not Influence POAG Risk in a Saudi Cohort

Overview

Journal BMC Res Notes

Publisher Biomed Central

Specialties Biology
General Medicine

Date 2018 Oct 18

PMID 30326957

Citations 4

Authors

Altaf A Kondkar

Tahira Sultan

Faisal A Almobarak

Hatem Kalantan

Khaled K Abu-Amero

Saleh A Al-Obeidan

Affiliations

Soon will be listed here.

Abstract

Objective: Plexin domain containing 2 (PLXDC2), a cell surface transmembrane protein receptor for pigment epithelium derived factor, is expressed in many tissues including the eye. Polymorphism rs7081455 flanking PLXDC2 has been associated with primary open angle glaucoma (POAG) and its clinical phenotypes and may have a role in POAG. Rs7081455 was genotyped in POAG cases (n = 188) and non-glaucomatous controls (n = 164) of Saudi origin using Taq-Man to determine any association of this variant with POAG and its endophenotypes.

Results: The risk variant, 'G' allele, frequency was 0.56 and 0.52 in controls and POAG cases, respectively (p = 0.197) with was no significant deviation from Hardy-Weinberg equilibrium. Genotype analysis between cases and controls revealed no significant distribution under additive (p = 0.482), dominant (p = 0.590) and recessive models (p = 0.228). In addition, glaucoma specific phenotypic traits such as intraocular pressure (IOP) and cup/disc ratio; and number of anti-glaucoma medications, used to assess severity of the disease, were also statistically non-significant. Furthermore, regression analysis showed no significant effect of age, sex and genotype on disease outcome. Rs7081455 was not associated with POAG or its clinical phenotypes such as IOP and cup/disc ratio and hence may not be a significant risk factor for POAG patients of Saudi origin.

Citing Articles

Prevalence Rates and Risk Factors for Primary Open Angle Glaucoma in the Middle East.

Torabi R, Harris A, Siesky B, Zukerman R, Oddone F, Mathew S J Ophthalmic Vis Res. 2021; 16(4):644-656.

PMID: 34840687 PMC: 8593541. DOI: 10.18502/jovr.v16i4.9755.

Lack of Association Between Polymorphisms in and and Primary Open-Angle Glaucoma in a Saudi Cohort.

Kondkar A, Azad T, Alobaidan A, Sultan T, Osman E, Almobarak F Front Genet. 2021; 12:690780.

PMID: 34408771 PMC: 8365832. DOI: 10.3389/fgene.2021.690780.

Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations.

Zukerman R, Harris A, Verticchio Vercellin A, Siesky B, Pasquale L, Ciulla T Genes (Basel). 2021; 12(1).

PMID: 33396423 PMC: 7823611. DOI: 10.3390/genes12010055.

Association of endothelial nitric oxide synthase (NOS3) gene polymorphisms with primary open-angle glaucoma in a Saudi cohort.

Kondkar A, Azad T, Sultan T, Osman E, Almobarak F, Al-Obeidan S PLoS One. 2020; 15(1):e0227417.

PMID: 31914149 PMC: 6948740. DOI: 10.1371/journal.pone.0227417.

References

Charlesworth J, Kramer P, Dyer T, Diego V, Samples J, Craig J . The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness. Invest Ophthalmol Vis Sci. 2010; 51(7):3509-14. PMC: 2904007. DOI: 10.1167/iovs.09-4786. View

Rao K, Kaur I, Chakrabarti S . Lack of association of three primary open-angle glaucoma-susceptible loci with primary glaucomas in an Indian population. Proc Natl Acad Sci U S A. 2009; 106(44):E125-6. PMC: 2774000. DOI: 10.1073/pnas.0910416106. View

Cao D, Jiao X, Liu X, Hennis A, Leske M, Nemesure B . CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies. PLoS One. 2012; 7(6):e39278. PMC: 3384655. DOI: 10.1371/journal.pone.0039278. View

Cheng G, Zhong M, Kawaguchi R, Kassai M, Al-Ubaidi M, Deng J . Identification of PLXDC1 and PLXDC2 as the transmembrane receptors for the multifunctional factor PEDF. Elife. 2014; 3:e05401. PMC: 4303762. DOI: 10.7554/eLife.05401. View

Vishal M, Sharma A, Kaurani L, Alfano G, Mookherjee S, Narta K . Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma. BMC Med Genomics. 2016; 9:15. PMC: 4802647. DOI: 10.1186/s12920-016-0177-6. View

Takamoto M, Kaburaki T, Mabuchi A, Araie M, Amano S, Aihara M . Common variants on chromosome 9p21 are associated with normal tension glaucoma. PLoS One. 2012; 7(7):e40107. PMC: 3390321. DOI: 10.1371/journal.pone.0040107. View

Abu-Amero K, Kondkar A, Chalam K . An Updated Review on the Genetics of Primary Open Angle Glaucoma. Int J Mol Sci. 2015; 16(12):28886-911. PMC: 4691082. DOI: 10.3390/ijms161226135. View

Al Obeidan S, Dewedar A, Osman E, Mousa A . The profile of glaucoma in a Tertiary Ophthalmic University Center in Riyadh, Saudi Arabia. Saudi J Ophthalmol. 2013; 25(4):373-9. PMC: 3729326. DOI: 10.1016/j.sjopt.2011.09.001. View

Nakano M, Ikeda Y, Taniguchi T, Yagi T, Fuwa M, Omi N . Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. Proc Natl Acad Sci U S A. 2009; 106(31):12838-42. PMC: 2722348. DOI: 10.1073/pnas.0906397106. View

10.

Mabuchi F, Mabuchi N, Takamoto M, Sakurada Y, Yoneyama S, Kashiwagi K . Genetic Variant Near PLXDC2 Influences the Risk of Primary Open-angle Glaucoma by Increasing Intraocular Pressure in the Japanese Population. J Glaucoma. 2017; 26(11):963-966. DOI: 10.1097/IJG.0000000000000790. View

11.

Kim K, Heo D, Kim S, Kim J, Kim C, Kang C . Expansive marker analysis replicating the association of glaucoma susceptibility with human chromosome loci 1q43 and 10p12.31. Eur J Hum Genet. 2013; 22(3):409-13. PMC: 3925277. DOI: 10.1038/ejhg.2013.149. View

12.

Chen L, Tam P, Leung D, Fan A, Zhang M, Tham C . SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma. Mol Vis. 2012; 18:1629-39. PMC: 3388985. View

13.

Janssen S, Gorgels T, Ramdas W, Klaver C, Van Duijn C, Jansonius N . 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. View

14.

Kondkar A, Mousa A, Azad T, Sultan T, Alawad A, Altuwaijri S . Polymorphism rs7555523 in transmembrane and coiled-coil domain 1 (TMCO1) is not a risk factor for primary open angle glaucoma in a Saudi cohort. J Negat Results Biomed. 2016; 15(1):17. PMC: 5043619. DOI: 10.1186/s12952-016-0060-1. View

15.

Rogers M, Navarro I, Perkumas K, Niere S, Allingham R, Crosson C . Pigment epithelium-derived factor decreases outflow facility. Invest Ophthalmol Vis Sci. 2013; 54(10):6655-61. PMC: 3796938. DOI: 10.1167/iovs.13-12766. View