title: Vitamin D receptor gene polymorphism and its association with 1,25-dihydroxyvitamin D₃ in patients with Graves disease in an Egyptian population: a pilot study.
abstract: OBJECTIVE
  To study the association of vitamin D receptor (VDR) gene polymorphisms (BsmI, ApaI, and TaqI) with susceptibility to Graves disease (GD) in Egyptian patients and their correlation with serum levels of 1,25-dihydroxyvitamin D₃ [1,25(OH)2D3].
  
  
  METHODS
  The current study consisted of 90 patients with GD (65 women and 25 men), with ages ranging from 25 to 55 years. A control group of 55 healthy euthyroid subjects (40 women and 15 men) with matched ages were included in the study. Genotyping was performed by restriction fragment length polymorphism analysis. Serum levels of 1,25(OH)2D3 were measured with use of radioimmunoassay in the patients and the control subjects.
  
  
  RESULTS
  The distribution of genotype frequencies differed significantly between patients with GD and control subjects (BsmI: χ² = 10.627, P = .004; ApaI: χ² = 12.581, P = .001; TaqI: χ² = 9.591, P = .008). We found overexpression of the VDR BsmI "bb" (odds ratio, 2.360; 95% confidence interval [CI], 1.11 to 4.996), ApaI "aa" (odds ratio, 2.785; 95% CI, 1.116 to 6.933), and TaqI "TT" (odds ratio, 3.047; 95% CI, 1.478 to 6.283) genotypes in patients with GD in comparison with control subjects. In contrast, no correlation was observed with respect to the 1,25(OH)2D3 levels with BsmI, ApaI, and TaqI genotypes (P>.05) on the analysis of variance test.
  
  
  CONCLUSIONS
  These data suggested that BsmI, ApaI, and TaqI polymorphisms in the VDR gene were associated with susceptibility to GD, whereas BsmI, ApaI, and TaqI polymorphisms were not associated with serum levels of 1,25(OH)2D3.
authors.affiliation: Department of Clinical Pathology, Mansoura University, Egypt. somaabdelgawad@yahoo.com
authors.forename: Soma Sherif
authors.initials: SS
authors.lastname: Abd El Gawad
authors.forename: Elham Ragab
authors.initials: ER
authors.lastname: Abdul Samee
authors.forename: Abdelhamid A
authors.initials: AA
authors.lastname: Metwali
authors.forename: Mohamed Sherif
authors.initials: MS
authors.lastname: Abd El Gawad
mesh_terms: D000328:Adult; D000483:Alleles; D054458:Amplified Fragment Length Polymorphism Analysis; D002117:Calcitriol / Q000097:blood*; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006111:Graves Disease / Q000097:blood* / Q000235:genetics* / Q000378:metabolism; D006785:Hospitals, University; D006801:Humans; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol; D002117:Calcitriol