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.

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.

Conclusion: 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.