{"title":"中国汉族人群维生素D受体基因多态性与钙性尿石症的关系","authors":"Shuai Wang, Xiao Wang, Jian Wu, Yiwei Lin, Hong Chen, Xiangyi Zheng, Cheng Zhou, Liping Xie","doi":"10.1007/s00240-011-0438-y","DOIUrl":null,"url":null,"abstract":"<p><p>To investigate the effect of the vitamin D receptor (VDR) Fok I Bsm I Dde I Apa I Taq I polymorphism on the clinical presentation of calcium urolithiasis, 464 patients with urolithiasis and 450 age- and sex-matched healthy controls were recruited from The First Affiliated Hospital of Zhejiang University between January 2010 and March 2011. Five SNPs of VDR polymorphism were detected using polymerase chain reaction-based restriction analysis. The frequency of VDR Apa I genotypes between the patients and the healthy controls was significantly different (P = 0.006). Apa I a allele was found to be associated with increased risk of stone recurrence (P = 0.028). We also found Fok I Dde I Apa I showed a significant difference between male and female in the patients group (P < 0.05). Haplotype analysis of the five VDR polymorphisms showed a significant association with urolithiasis (global-P value = 0.0001). Genetic polymorphisms of VDR are important in the clinical presentation of patients with calcium urolithiasis in the Han population of southern China.</p>","PeriodicalId":23412,"journal":{"name":"Urological Research","volume":"40 4","pages":"277-84"},"PeriodicalIF":0.0000,"publicationDate":"2012-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00240-011-0438-y","citationCount":"25","resultStr":"{\"title\":\"Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population.\",\"authors\":\"Shuai Wang, Xiao Wang, Jian Wu, Yiwei Lin, Hong Chen, Xiangyi Zheng, Cheng Zhou, Liping Xie\",\"doi\":\"10.1007/s00240-011-0438-y\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>To investigate the effect of the vitamin D receptor (VDR) Fok I Bsm I Dde I Apa I Taq I polymorphism on the clinical presentation of calcium urolithiasis, 464 patients with urolithiasis and 450 age- and sex-matched healthy controls were recruited from The First Affiliated Hospital of Zhejiang University between January 2010 and March 2011. Five SNPs of VDR polymorphism were detected using polymerase chain reaction-based restriction analysis. The frequency of VDR Apa I genotypes between the patients and the healthy controls was significantly different (P = 0.006). Apa I a allele was found to be associated with increased risk of stone recurrence (P = 0.028). We also found Fok I Dde I Apa I showed a significant difference between male and female in the patients group (P < 0.05). Haplotype analysis of the five VDR polymorphisms showed a significant association with urolithiasis (global-P value = 0.0001). Genetic polymorphisms of VDR are important in the clinical presentation of patients with calcium urolithiasis in the Han population of southern China.</p>\",\"PeriodicalId\":23412,\"journal\":{\"name\":\"Urological Research\",\"volume\":\"40 4\",\"pages\":\"277-84\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2012-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1007/s00240-011-0438-y\",\"citationCount\":\"25\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Urological Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s00240-011-0438-y\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2011/11/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Urological Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s00240-011-0438-y","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2011/11/25 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 25
摘要
为了研究维生素D受体(VDR) Fok I Bsm I Dde I Apa I Taq I多态性对钙性尿石症临床表现的影响，我们于2010年1月至2011年3月在浙江大学第一附属医院招募了464例尿石症患者和450例年龄和性别匹配的健康对照。采用聚合酶链反应限制性内切法检测5个VDR多态性snp。患者与健康对照组VDR Apa I基因型频率差异有统计学意义(P = 0.006)。发现apa1等位基因与结石复发风险增加相关(P = 0.028)。我们还发现患者组中Fok I Dde I Apa I在男性和女性之间有显著差异(P < 0.05)。五种VDR多态性的单倍型分析显示与尿石症有显著相关性(全球p值= 0.0001)。VDR基因多态性在中国南方汉族钙性尿石症患者的临床表现中具有重要意义。
Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population.
To investigate the effect of the vitamin D receptor (VDR) Fok I Bsm I Dde I Apa I Taq I polymorphism on the clinical presentation of calcium urolithiasis, 464 patients with urolithiasis and 450 age- and sex-matched healthy controls were recruited from The First Affiliated Hospital of Zhejiang University between January 2010 and March 2011. Five SNPs of VDR polymorphism were detected using polymerase chain reaction-based restriction analysis. The frequency of VDR Apa I genotypes between the patients and the healthy controls was significantly different (P = 0.006). Apa I a allele was found to be associated with increased risk of stone recurrence (P = 0.028). We also found Fok I Dde I Apa I showed a significant difference between male and female in the patients group (P < 0.05). Haplotype analysis of the five VDR polymorphisms showed a significant association with urolithiasis (global-P value = 0.0001). Genetic polymorphisms of VDR are important in the clinical presentation of patients with calcium urolithiasis in the Han population of southern China.
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