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Vitamin D receptor polymorphism is associated with psoriasis

Author(s): Park BS, Park JS, Lee DY, Youn JI, Kim IG


Vitamin D receptor is a trans-acting transcriptional factor that mediates 1α,25-dihydroxyvitamin D3 action in the regulation of target gene expression. Recent studies have shown that clinical response of psoriasis to 1α,25-dihydroxyvitamin D3 is correlated with the vitamin D receptor mRNA expression level, which may be influenced by the genotype of the vitamin D receptor. In this study, we have explored a possible association between psoriasis and the polymorphism in the gene encoding the vitamin D receptor. We examined the allelic frequencies of the vitamin D receptor in psoriasis patients (n = 104) and in healthy controls (n = 104) by analyzing the restriction pattern of the polymerase chain reaction products. A significant increase in the frequency of the A allele (absence of the restriction site at intron 8) by ApaI restriction fragment length polymorphism was observed in psoriasis patients compared with that of the control group, and the tendency was more accentuated in early onset psoriasis. Odds ratios (95% confidence interval) for psoriasis of AA and Aa genotypes were 5.0 (1.3–19.1) and 2.4 (1.3–4.3), and odds ratios for early onset of AA and Aa genotypes were 6.4 (1.6–25.0) and 3.1 (1.7–5.9), respectively. Allele frequencies for A and a alleles were 0.317 and 0.683 in the psoriasis group and 0.168 and 0.832 in the control group (p = 0.001). A significant association between vitamin D receptor genotypes and the mean age at onset was observed (p < 0.05). Our findings suggest that allelic variance in the vitamin D receptor gene itself or other genes in linkage disequilibrium with this gene, could predispose to the development of psoriasis.

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