Tagliabue J, Farina M, Imbasciati E, Vergani C, Annoni G
Department of Internal Medicine, University of Milan, Italy.
Am J Clin Pathol. 1999 Sep;112(3):366-70. doi: 10.1093/ajcp/112.3.366.
Since bone mineral density may be influenced by the polymorphisms of the vitamin D receptor (VDR) gene, we studied whether VDR genotypes might drive the progression toward hyperparathyroidism or hypoparathyroidism in patients with end-stage renal disease. On the basis of their parathyroid hormone (PTH) levels, we divided 99 patients undergoing dialysis into 2 groups: 56 patients with hypoparathyroidism (PTH < 104 pg/mL [< 11 pmol/L]) and 43 with hyperparathyroidism (PTH > 261 pg/mL [> 27.5 pmol/L]). The BB polymorphism was more frequent in patients with hypoparathyroidism (34%) than in patients with hyperparathyroidism (16%), but the difference did not reach statistical significance. Patients with the B allele and BB genotype had a significantly lower dialytic age and serum PTH and alkaline phosphatase levels than patients with the b allele and bb genotype. These results suggest that in end-stage renal disease, the BB genotype may mark a higher risk of developing hypoparathyroidism and diminished bone turnover.
由于骨矿物质密度可能受维生素D受体（VDR）基因多态性的影响，我们研究了VDR基因分型是否会促使终末期肾病患者发展为甲状旁腺功能亢进或减退。根据患者的甲状旁腺激素（PTH）水平，我们将99例接受透析的患者分为两组：56例甲状旁腺功能减退患者（PTH<104 pg/mL [<11 pmol/L]）和43例甲状旁腺功能亢进患者（PTH>261 pg/mL [>27.5 pmol/L]）。BB基因多态性在甲状旁腺功能减退患者中（34%）比在甲状旁腺功能亢进患者中（16%）更常见，但差异未达到统计学意义。携带B等位基因和BB基因型的患者的透析年龄、血清PTH和碱性磷酸酶水平显著低于携带b等位基因和bb基因型的患者。这些结果表明，在终末期肾病中，BB基因型可能标志着发生甲状旁腺功能减退和骨转换降低的风险较高。
