title: 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: 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.
  
  
  BACKGROUND
  Clinical Trials.gov: NCT02539745 . The study was registered retrospectively on August 3rd, 2015. The first participant was enrolled on July 4th, 2013.
authors.affiliation: 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.
authors.forename: Yingjuan
authors.initials: Y
authors.lastname: Lv
authors.affiliation: Department of Histology and Embryology, Tianjin Medical University, No. 22 Qi Xiang Tai Road, He Ping District, Tianjin, 300070, China.
authors.forename: Qingbin
authors.initials: Q
authors.lastname: Yao
authors.affiliation: 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.
authors.forename: Wenjiang
authors.initials: W
authors.lastname: Ma
authors.affiliation: 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.
authors.forename: Hua
authors.initials: H
authors.lastname: Liu
authors.affiliation: 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.
authors.forename: Jian
authors.initials: J
authors.lastname: Ji
authors.affiliation: 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. lvyingjuan@tmu.edu.cn.
authors.forename: Xiaorong
authors.initials: X
authors.lastname: Li
mesh_terms: D000368:Aged; D000483:Alleles; D000071616:CDX2 Transcription Factor / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D014807:Vitamin D / Q000031:analogs & derivatives / Q000097:blood; D014808:Vitamin D Deficiency / Q000150:complications / Q000235:genetics*
chemical_list: D000071616:CDX2 Transcription Factor; D018167:Receptors, Calcitriol; C118756:dihydroxy-vitamin D3; D014807:Vitamin D
keywords: Polymorphism; Primary open-angle glaucoma; Vitamin D deficiency; Vitamin D receptor