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维吾尔族尿石症患儿的生化代谢水平与维生素 D 受体 FokⅠ 基因多态性。

Biochemical metabolic levels and vitamin D receptor FokⅠ gene polymorphisms in Uyghur children with urolithiasis.

机构信息

Department of Preventive Medicine, Shantou University Medical College, Shantou, Guangdong, China.

Department of Hepatobiliary Surgery II, Zhujiang Hospital of Southern Medical University, Guangzhou, Guangdong, China.

出版信息

PLoS One. 2019 Feb 11;14(2):e0212183. doi: 10.1371/journal.pone.0212183. eCollection 2019.

Abstract

Because of lacking studies of urolithiasis in children, we detected the biochemical metabolic levels and FokⅠ polymorphisms in the vitamin D receptor (VDR) in Uyghur children with urolithiasis, and evaluated the associations of biochemical metabolic levels with FokⅠ genotypes. We included 142 Uyghur children (108 males) under age 14 years with a diagnosis of urolithiasis and 238 Uyghur children (154 males) under age 14 years without a history of urolithiasis as controls. Baseline information and data for serum and urine parameters were obtained from medical records. PCR-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the VDR FokⅠ polymorphisms. In univariate analyses adjusting for age and sex, carbon dioxide combining power (CO2CP) (odds ratio [OR] = 1.13, 95% confidence interval [CI]: 1.07-1.19), serum magnesium (Mg) (OR = 1.27, 95% CI: 1.03-1.56) and serum chlorine (Cl) (OR = 0.93, 95% CI: 0.88-0.97) were related to Uyghur children urolithiasis risk. A multiple logistic regression model showed CO2CP (OR = 1.17, 95% CI: 1.09-1.26), levels of uric acid (OR = 1.01, 95% CI: 1.00-1.01) and serum sodium (Na) (OR = 0.90, 95% CI: 0.82-0.99) were associated with pediatric urolithiasis. The risk of urolithiasis was increased with the F versus f allele overall (OR = 1.42; 95% CI: 1.01-2.00) and for males (OR = 1.52, 95% CI: 1.02-2.27). However, metabolic levels did not differ by FokⅠ genotypes. In our population, CO2CP and levels of uric acid and serum Na as well as polymorphism of the F allele of the VDR FokⅠ may provide important clues to evaluate the risk of urolithiasis in Uyghur children.

摘要

由于儿童尿石症研究较少,我们检测了维吾尔族儿童尿石症患者维生素 D 受体(VDR)的生化代谢水平和 FokⅠ多态性,并评估了生化代谢水平与 FokⅠ基因型的相关性。我们纳入了 142 名年龄在 14 岁以下的维吾尔族儿童(108 名男性),这些儿童患有尿石症,238 名年龄在 14 岁以下的维吾尔族儿童(154 名男性)无尿石症病史作为对照。从病历中获得了基线信息和血清及尿液参数数据。PCR 限制性片段长度多态性(PCR-RFLP)用于分析 VDR FokⅠ多态性。在调整年龄和性别因素的单因素分析中,二氧化碳结合力(CO2CP)(比值比[OR] = 1.13,95%置信区间[CI]:1.07-1.19)、血清镁(Mg)(OR = 1.27,95%CI:1.03-1.56)和血清氯(Cl)(OR = 0.93,95%CI:0.88-0.97)与维吾尔族儿童尿石症风险相关。多因素 logistic 回归模型显示,CO2CP(OR = 1.17,95%CI:1.09-1.26)、尿酸水平(OR = 1.01,95%CI:1.00-1.01)和血清钠(Na)(OR = 0.90,95%CI:0.82-0.99)与儿科尿石症相关。F 等位基因与 f 等位基因的总体风险(OR = 1.42;95%CI:1.01-2.00)和男性(OR = 1.52,95%CI:1.02-2.27)升高。然而,代谢水平在 FokⅠ基因型之间没有差异。在我们的人群中,CO2CP 以及尿酸和血清 Na 水平和 VDR FokⅠ的 F 等位基因多态性可能为评估维吾尔族儿童尿石症风险提供重要线索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/598c/6370244/ed4b05773af7/pone.0212183.g001.jpg

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