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.
Chinese Bai population Vitamin D receptor (VDR) Single nucleotide polymorphism (SNP) Idiopathic hypocitraturia (IH) Sanger sequencing
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KL and YL contributed equally to the paper.
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).
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
Informed consent forms were signed by all individual participants included in the study.
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