中国傣族人群维生素D受体基因多态性与含钙肾结石和低枸橼酸尿的关联研究
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云南省科技厅科技计划项目(202001AY070001-158),云南省德宏州科技计划项目(ZC202310).


Association of vitamin D receptor gene polymorphisms with calcium-containing renal calculi and hypocitraturia in Chinese Dai population
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Supported by Science and Technology Project of Yunnan Provincial Department of Science and Technology (202001AY070001-158) and Dehong Prefecture Science and Technology Project of Yunnan Province (ZC202310).

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    摘要:

    目的 探讨中国傣族人群维生素D受体(VDR)基因多态性与含钙肾结石和低枸橼酸尿的相关性。方法 选择2021年5月至2022年11月在昆明医科大学第一附属医院和附属德宏医院住院并手术治疗的160例傣族含钙肾结石患者以及同期进行健康体检的87名傣族健康对照个体,收集静脉血检测VDR基因4个单核苷酸多态性(SNP)位点rs7975232、rs2228570、rs731236、rs1544410,收集24 h尿液测定24 h尿枸橼酸含量,比较傣族含钙肾结石患者和健康对照人群VDR基因SNP位点等位基因分布情况并分析其与24 h尿枸橼酸含量的关系。结果 两组人群VDR基因rs7975232位点的A和C等位基因分布差异有统计学意义(P<0.05),基因型分布差异无统计学意义(P>0.05);其他3个位点等位基因和基因型分布差异均无统计学意义(均P>0.05)。含钙肾结石患者中,rs7975232位点CC基因型和AC基因型者的24 h尿枸橼酸含量[(527±239)、(508±255)mg/24 h]均高于AA基因型者[(346±214)mg/24 h],差异有统计学意义(均P<0.05)。结论 中国傣族人群VDR基因rs7975232位点多态性与含钙肾结石和低枸橼酸尿的发生相关。

    Abstract:

    Objective To investigate the association of vitamin D receptor (VDR) gene polymorphism with calcium-containing renal calculi and hypocitraturia in the Chinese Dai population. Methods A total of 160 Dai patients with calcium-containing renal calculi who were hospitalized and underwent surgical treatment at The First Affiliated Hospital of Kunming Medical University and Dehong Hospital Affiliated to Kunming Medical University between May 2021 and Nov. 2022 were enrolled, along with 87 Dai healthy controls who underwent physical examinations during the same period. Venous blood was collected to detect 4 single nucleotide polymorphism (SNP) sites of the VDR gene (rs7975232, rs2228570, rs731236, and rs1544410). Twenty-four-hour urine samples were collected to measure the 24-h urinary citrate contents. The distribution of alleles at the VDR gene SNP sites was compared between the Dai patients with calcium-containing renal calculi and healthy controls, and the relationship between these SNPs and 24-h urinary citrate content was analyzed. Results A significant difference was noted in the distribution of the A and C alleles of VDR gene rs7975232 between the 2 groups (P<0.05), whereas no significance was detected in the corresponding genotype distribution (P>0.05). For the remaining 3 SNPs, neither allele nor genotype frequencies showed significant differences (all P>0.05). Among patients with calcium-containing renal calculi, individuals carrying the CC or AC genotype of rs7975232 had significantly higher 24-h urinary citrate than those with the AA genotype ([527±239] mg/24 h or [508±255] mg/24 h vs [346±214] mg/24 h, both P<0.05). Conclusion The rs7975232 polymorphism of the VDR gene is associated with the risk of calcium-containing renal calculi and hypocitraturia in the Chinese Dai population.

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  • 收稿日期:2024-05-22
  • 最后修改日期:2025-08-26
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  • 在线发布日期: 2026-01-23
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