- 作者：Ill Young Seo ; In-Hong Kang ; Soo-Cheon Chae ; Seung Chol Park ; Young-Jin Lee ; Yun Sik Yang ; Soo Bang Ryu ; Joung Sik Rim
- 刊名：Urology
- 出版年：2010
- 出版时间：April 2010
- 年：2010
- 卷：75
- 期：4
- 页码：923-927
- 全文大小：167 K
Objectives
To evaluate vitamin D receptor (VDR) gene polymorphisms in Korean patients so as to identify the candidate genes associated with urinary stones. Urinary stones are a multifactorial disease that includes various genetic factors.Methods
A normal control group of 535 healthy subjects and 278 patients with urinary stones was evaluated. Of 125 patients who presented stone samples, 102 had calcium stones on chemical analysis. The VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms were evaluated using the polymerase chain reaction-restriction fragment length polymorphism analysis. Allelic and genotypic frequencies were calculated to identify associations in both groups. The haplotype frequencies of the VDR gene polymorphisms for multiple loci were also determined.
Results
For the VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms, there was no statistically significant difference between the patients with urinary stones and the healthy controls. There was also no statistically significant difference between the patients with calcium stones and the healthy controls. A novel haplotype (Ht 4; CTTT) was identified in 13.5 % of the patients with urinary stones and in 8.3 % of the controls (P = .001). The haplotype frequencies were significantly different between the patients with calcium stones and the controls (P = .004).
Conclusions
The VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms does not seem to be candidate genetic markers for urinary stones in Korean patients. However, 1 novel haplotype of the VDR gene polymorphisms for multiple loci might be a candidate genetic marker.