CAJ | 학술논문

目的探讨维生素D受体(VDR)基因Fok Ⅰ及Klotho G395A和C1818T多态性位点在华东地区汉族人群中与尿路含钙结石发病风险的相关性.方法 306例尿路含钙结石患者及241名年龄匹配、无结石病史及家族史的健康对照者被纳入本研究.采用TaqMan单核苷多态性基因型分析方法,对2个Klotho基因多态性位点及VDR Fok Ⅰ位点与尿路含钙结石发病风险的相关性进行分析.结果 Fok Ⅰ FF纯合子基因型携带者结石发病风险显著高于ff纯合子基因型[比值比(OR)=1.68,95％可信区间(CI)=1.03 ～ 2.76,P＜0.05].同时,与f等位基因相比,F等位基因携带者结石发病风险增加了1.28倍,差异有统计学意义(OR=1.28,95％ CI=1.01～1.63,P＜0.05).结论 Fok Ⅰ位点F等位基因在华东地区汉族人群中可能成为尿路含钙结石形成过程中的危险因子.
목적 탐토유생소D수체(VDR)기인Fok Ⅰ급Klotho G395A화C1818T다태성위점재화동지구한족인군중여뇨로함개결석발병풍험적상관성.방법 306례뇨로함개결석환자급241명년령필배、무결석병사급가족사적건강대조자피납입본연구.채용TaqMan단핵감다태성기인형분석방법,대2개Klotho기인다태성위점급VDR Fok Ⅰ위점여뇨로함개결석발병풍험적상관성진행분석.결과 Fok Ⅰ FF순합자기인형휴대자결석발병풍험현저고우ff순합자기인형[비치비(OR)=1.68,95％가신구간(CI)=1.03 ～ 2.76,P＜0.05].동시,여f등위기인상비,F등위기인휴대자결석발병풍험증가료1.28배,차이유통계학의의(OR=1.28,95％ CI=1.01～1.63,P＜0.05).결론 Fok Ⅰ위점F등위기인재화동지구한족인군중가능성위뇨로함개결석형성과정중적위험인자.
Objective We aimed to investigate the relationships among vitamin D receptor (VDR) gene,klotho gene polymorphisms and the risk of calcium urolithiasis in the Han nationality of Eastern China.Methods 306 patients with calcium urolithiasis were compared with 241 age-matched healthy volunteers with no history of stone formation for the frequency of VDR gene polymorphism Fok Ⅰ and klotho gene polymorphisms (G395A in the promoter region and C1818T in exon 4),using TaqMan SNP Genotyping Assays.Results The results revealed that patients carrying the FF homozygote had a higher risk of stone formation than those with the ff homozygote [odds ratio (OR) =1.68,95％ confidence interval (CI) =1.03-2.76,P ＜ 0.05].We also found those with F allele had a absolutely higher prevalence of stone formation compared with subjects with f allele (OR =1.28,95％ CI =1.01-1.63,P ＜ 0.05).Conclusion These findings indicated the Fok Ⅰ polymorphism of VDR gene was associated with the risk of calcium urolithiasis,which might act as a risk factor for stone formation in our study sample.