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BACKGROUND: 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. METHODS: Seventy-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. RESULTS: Serum 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. CONCLUSIONS: Vitamin 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 REGISTRATION: Clinical Trials.gov: NCT02539745 . The study was registered retrospectively on August 3rd, 2015. The first participant was enrolled on July 4th, 2013.
Department of Glaucoma, Tianjin Medical University Eye Hospital, Tianjin Medical University Eye Institute, The School of Optometry&Ophthalmology, No.251 Fu Kang Road, Nan kai District, Tianjin, 300384, China.
Full article9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
3.7 Biochemistry (Part of: 3 Laboratory methods)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)