Nishijima Saori, Sugaya Kimio, Naito Ayako, Morozumi Makoto, Hatano Tadashi, Ogawa Yoshihide
Department of Urology, University of the Ryukyus, Okinawa, Japan.
J Urol. 2002 May;167(5):2188-91.
Recent studies suggest that allelic variations of the vitamin D receptor (VDR) gene can influence calcium absorption and excretion. Therefore, we studied the association of VDR gene polymorphism with urolithiasis.
We studied 83 patients with urinary stones and 83 controls. Patients were scored for certain clinical characteristics, including long axis diameter of the largest stone (1 point-less than 10 mm. and 2-10 mm. or greater), number of stones (1 point-1 and 2-multiple) and history of calcium stone disease (1 point-absent and 2-present). They were classified into 3 groups according to the total score, including low-3, intermediate-4 or 5 and high-6 points. The 2 VDR gene polymorphisms TaqI and ApaI were detected by polymerase chain reaction-restriction fragment length polymorphism and their relationships with the urinary calcium level were examined.
The incidence of TaqI Tt and tt genotypes was significantly higher in the high score group than in controls. The TaqI t allele was associated with a 5.2-fold increase in the risk of severe stone disease. The urinary calcium level in patients with the Tt and tt genotypes was also higher than in those with the TT genotype. The rate of the ApaI genotype was not different in the high score group and controls.
The TaqI t allele of the VDR gene may be a risk factor for severe stone disease and recurrent stones.
近期研究表明，维生素D受体（VDR）基因的等位基因变异会影响钙的吸收和排泄。因此，我们研究了VDR基因多态性与尿石症的关联。
我们研究了83例尿路结石患者和83例对照者。对患者的某些临床特征进行评分，包括最大结石的长轴直径（1分 - 小于10毫米，2分 - 10毫米或更大）、结石数量（1分 - 1个，2分 - 多个）以及钙结石病史（1分 - 无，2分 - 有）。根据总分将他们分为3组，包括低分（3分）、中等分（4分或5分）和高分（6分）。通过聚合酶链反应 - 限制性片段长度多态性检测VDR基因的2种多态性TaqI和ApaI，并检查它们与尿钙水平的关系。
高分组中TaqI Tt和tt基因型的发生率显著高于对照组。TaqI t等位基因与严重结石病风险增加5.2倍相关。Tt和tt基因型患者的尿钙水平也高于TT基因型患者。高分组和对照组中ApaI基因型的比例没有差异。
VDR基因的TaqI t等位基因可能是严重结石病和复发性结石的危险因素。
