山东泰安地区汉族维生素D受体多态性与终末期肾病及高转运肾性骨病发展关系的研究  

Association of vitamin D receptor gene polymorphism with end-stage renal disease and the development of high-turnover renal osteodystrophy in Tai'an city

作　　者：王丽雅[1] 

机构地区：[1]泰安市中心医院肾病一科,山东省271000

出　　处：《中华临床医师杂志（电子版）》2016年第9期48-51,共4页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的探讨在山东泰安地区汉族中,两种位于维生素D受体（VDR）的基因TaqⅠ（rs731236）和ApaⅠ（rs7975232）的多态性与终末期肾病（ESRD）和肾性骨病进展的关系。方法收集血液透析ESRD患者452例,分别测血甲状旁腺激素（i PTH）、钙、磷、碱性磷酸酶和白蛋白分析。同时,采用PCR-限制性片段长度多态性方法检测VDR基因TaqⅠ和ApaⅠ的多态性。结果 TaqⅠ多态性与ESRD危险性无关。但是杂合子模型（AC/AA：P=0.002;OR=1.4,95%CI 1.14~1.83）,纯合子模型CC（CC/AA：P=0.007;OR=1.8,95%CI 1.17~2.85）,rs7975232等位基因模型（P〈0.001;OR=1.4,95%CI 1.15~1.64）、显性模型（P=0.001;OR=1.5,95%CI 1.19~1.87）和隐性模型（P=0.046;OR=0.6,95%CI 0.42~1.00）均显示ApaⅠ多态性与ESRD风险有关。rs7975232基因型和等位基因频率分布与i PTH水平有关。C等位基因携带者的i PTH水平上升（P=0.005）。结论 VDR基因的ApaⅠ（rs7975232）多态性可能是山东泰安地区汉族ESRD的易感基因,等位基因C携带者发生高转运肾性骨病风险增加。Objective To replicate the reported association of the two single nucleotide polymorphism（SNP） TaqⅠ（rs731236） and ApaⅠ（rs7975232） above in vitamin D receptor（VDR） gene and end-stage renal disease（ESRD） risk and progression of renal osteodystrophy in Tai＇an city. Methods A total of 452 ESRD patients were included in this study. Parathyroid hormone（i PTH）, calcium, phosphorus, alkaline phosphatase, and albumin were detected, VDR gene polymorphisms were explored by using PCR fragment length polymorphism method with TaqⅠ and ApaⅠ enzymes in all subjects. Results There were no associations of TaqⅠ（rs731236） polymorphism with ESRD risk. However, there were significant associations of ApaⅠ（rs7975232） polymorphism with ESRD risk, in heterozygote model（AC/AA： P=0.002; OR=1.4, 95% CI 1.14-1.83）, homozygote model CC（CC/AA： P=0.007; OR=1.8, 95% CI 1.17-2.85） genotypes for rs7975232, allelic model（P〈0.001; OR=1.4, 95% CI 1.15-1.64）, dominant model（P=0.001; OR=1.5, 95% CI 1.19-1.87） and recessive model（P=0.046; OR=0.6, 95% CI 0.42-1.00） between cases and healthy controls. Moreover, we found significant correlations of rs7975232 genotypes and allele distributions with i PTH levels. The analysis revealed that allele C carriers might have an increased i PTH level（P=0.005）. Conclusion ApaⅠ（rs7975232） polymorphism of VDR gene may be a susceptibility locus for ESRD patients in Tai＇an city, Shandong province Han individuals, and allele C carriers have an increased risk of high-turnover renal osteodystrophy.

关 键 词：肾疾病 多态性 单核苷酸 ApaⅠ TaqⅠ 

分 类 号：R692.5[医药卫生—泌尿科学]