Associations of vitamin D deficiency and vitamin D receptor (Cdx-2, Fok I, Bsm I and Taq I) polymorphisms with the risk of primary open-angle glaucoma

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.

The Effect of Vitamins on Glaucoma: A Systematic Review and Meta-Analysis

“…They found a vertically reversed J-shaped association of serum 25-hydroxyvitamin D with OAG (OR [95% CI]: 1.61 [1.09–2.38] for the lowest quintile compared to the second highest quintile; P-trend [quadratic] = 0.02), with a more pronounced effect in males [ 46 ]. Similarly, two other studies showed lower serum 25-hydroxyvitamin D levels in POAG patients [ 47 , 48 ]. In contrast, the retrospective cross-sectional Kangbuk Samsung health study did not find any difference in total vitamin D levels between patients with and without glaucoma [ 49 ].…”

“…Also a nested case-control study revealed no associations of 25-hydroxyvitamin D levels with IOP [ 50 ]. Vitamin D-related metabolites and polymorphisms of the vitamin D receptor gene have been negatively associated with POAG [ 47 , 51 ]. Regarding the dietary intake of vitamin D results on the risk of glaucoma are less promising.…”

Pseudoexfoliative glaucoma and molecular genetic characteristics of vitamin D metabolism

“…У больных с глаукомой такие работы остаются единичными. Так, в работе китайских учёных, по-свящённой изучению полиморфизмов BsmI, TaqI, FokI и Cdx-2 гена VDR у пациентов с ПОУГ (71 че-ловек китайской народности Han), было показано преобладание Bb-генотипа и B-аллеля полимор-физма BsmI (p = 0,001 и p = 0,002 соответствен-но) и Tt-генотипа и t-аллеля полиморфизма TaqI (p = 0,013 и p = 0,018 соответственно) по сравне-нию с группой здоровых добровольцев (73 челове-ка) [20]. В изученной нами популяции, так же как и в представленной выше работе, выявлена связь с полиморфизмом BsmI.…”

“…Так, показа-на связь указанных полиморфизмов с болезнью Паркинсона, сахарным диабетом, онкологической патологией, болезнью Альцгеймера [17,23,26]. В настоящее время имеются лишь единичные исследования, посвящённые установлению ассо-циаций между полиморфизмами VDR и патоло-гией органа зрения [2,20]. Таким образом, по-нимание механизмов развития открытоугольной глаукомы (в том числе ПЭГ и ПОУГ) и действия витамина D поможет расширить знания в этой области.…”

Food Supplements in the Treatment of Ophthalmic Diseases: Preclinical and Clinical Studies

“…A high prevalence of vitamin D deficiency is observed in patients with glaucoma, confirmed by low circulating amounts of vitamin D in these subjects [171,172]. Metabolomic analysis on plasma samples from 72 POAG patients compared to 72 healthy controls revealed alterations of vitamin D metabolic pathways correlating with vitamin D insufficiency in POAG patients [173]; moreover, the presence of specific vitamin D receptor polymorphisms were found to be relevant risk factors in the development of glaucoma [174]. Accordingly, other studies have reported low serum levels of vitamin D in POAG patients [175].…”