Abstract

BackgroundVitamin D deficiency and vitamin D receptor gene polymorphisms are known to be significantly associated with high myopia. Whether this genetic variant may impact primary open-angle glaucoma is largely unknown. This study investigated whether vitamin D receptor gene polymorphisms are altered in primary open-angle glaucoma subjects carrying the risk allele, and whether vitamin D deficiency is an important factor in the development of glaucoma.MethodsSeventy-three POAG patients and 71 age-matched controls from the Han population were enrolled. Serum levels of 1a, 25-Dihydroxyvitamin D3 were measured by enzyme-linked immunoabsorbent assay. Vitamin D receptor polymorphisms (Cdx-2, Fok I, Bsm I and Taq I) were analyzed using real-time polymerase-chain reaction high resolution melting analysis.ResultsSerum levels of 1a, 25-Dihydroxyvitamin in primary open-angle glaucoma patients were lower than in age-matched controls. Statistical analysis revealed a significant difference in the allelic frequencies of the BsmI and TaqI genotypes between primary open-angle glaucoma patients and age-matched controls, while other polymorphisms did not show any significant differences.ConclusionsVitamin D deficiency and the presence of the BsmI ‘B’ allele and the TaqI ‘t’ allele are relevant risk factors in the development of glaucoma.Trial registrationClinical Trials.gov: NCT02539745.The study was registered retrospectively on August 3rd, 2015. The first participant was enrolled on July 4th, 2013.

Highlights

  • Vitamin D deficiency and vitamin D receptor gene polymorphisms are known to be significantly associated with high myopia

  • Recent studies have demonstrated an association between vitamin D levels and myopia; vitamin D deficiency has been shown to influence the development of high myopia [19]

  • Analysis of serum levels of 1a, 25-Dihydroxyvitamin D3 Serum levels of 1a, 25-Dihydroxyvitamin D3 were measured for both 71 Primary open-angle glaucoma (POAG) patients and 73 age-matched controls

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Summary

Introduction

Vitamin D deficiency and vitamin D receptor gene polymorphisms are known to be significantly associated with high myopia. Whether this genetic variant may impact primary open-angle glaucoma is largely unknown. This study investigated whether vitamin D receptor gene polymorphisms are altered in primary open-angle glaucoma subjects carrying the risk allele, and whether vitamin D deficiency is an important factor in the development of glaucoma. Glaucoma is characterized by typical structural damage to the optic nerve, specific visual field defects, and often relatively higher intraocular pressure (IOP) [1, 2] It is a complex inherited disorder for which an increasing number of genetic associations have been described, each contributing modestly to disease burden [3]. Serum 25Dihydroxyvitamin D3 levels may be of critical concern to POAG patients

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