机构：[1]Department of Urology, The First Affiliated Hospital of Kunming Medical University, No. 295, Xichang Road, Kunming 650032, China外科科室泌尿外科昆明医科大学附属第一医院[2]Department of Medical Imaging, The First Affiliated Hospital of Kunming Medical University, No. 295, Xichang Road, Kunming 650032, China医技科室医学影像中心昆明医科大学附属第一医院
Idiopathic hypocitraturia (IH) is a risk factor for urolithiasis. IH is associated with vitamin D receptor (VDR) gene single nucleotide polymorphisms (SNPs) in a Chinese Han population. However, this association between VDR SNPs and IH has not been recapitulated in a Chinese Bai population. The aim of this study is to investigate the association between VDR SNPs and IH in a Chinese Bai population. A total of 320 participants comprising of 200 Chinese Bai patients with IH and 120 Chinese Bai control participants with normal urinary citrate level were enrolled for this study. The VDR SNPs rs7975232, rs2228570, rs731236 and rs1544410 were detected by Sanger sequencing, and the association between these SNPs and the presence of IH in the Chinese Bai population was analyzed. The prevalence of VDR SNPs rs7975232 allele A and rs2228570 genotype TT was significantly higher in patients than in controls (p<0.0125, after Bonferroni correction). The haplotype TCGC was a protective factor in the Chinese Bai population who otherwise might suffer from IH, while the haplotype TTGA was a risk factor. VDR SNPs rs731236 and rs1544410 have a linkage disequilibrium value of 0.811. VDR SNPs rs7975232, rs2228570, and haplotypes TCGC, TTGA are associated with IH in a Chinese Bai population.
基金：
This study was funded by National Natural Science Foundation
of China (Grant number 81460141), by Science and Technology
Department of Yunnan Province Uniting Kunming Medical University
Specialized Foundation (Grant number 2013FB134, 2017FE468(-029)
and 2017FE467(-042)), by Doctoral Scientific Research Fund of the
First Affiliated Hospital of Kunming Medical University (Grant number
2015BS026 and 2017BS016) and by the scientific research funding
of Yunnan Provincial Department of Education (Grant number
2018JS208).
第一作者机构：[1]Department of Urology, The First Affiliated Hospital of Kunming Medical University, No. 295, Xichang Road, Kunming 650032, China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Kangjian Li,Yuhui Luo,Yin Mo,et al.Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population[J].UROLITHIASIS.2019,47(3):235-242.doi:10.1007/s00240-018-1069-3.
APA：
Kangjian Li,Yuhui Luo,Yin Mo,Jihong Shen,Xiaodong Liu&Hao Li.(2019).Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population.UROLITHIASIS,47,(3)
MLA：
Kangjian Li,et al."Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population".UROLITHIASIS 47..3(2019):235-242
