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维生素 D 受体基因(FokI、TaqI、BsmI 和 ApaI)多态性与儿童尿路感染的关系。

Vitamin D receptor gene (FokI, TaqI, BsmI, and ApaI) polymorphisms in children with urinary tract infection.

机构信息

Qazvin Children Hospital, Qazvin University of Medical Sciences, Qazvin, Iran.

Cellular and Molecular Research Center, Qazvin University of Medical Sciences, Qazvin, Iran.

出版信息

Pediatr Res. 2018 Oct;84(4):527-532. doi: 10.1038/s41390-018-0092-y. Epub 2018 Jul 6.

DOI:10.1038/s41390-018-0092-y
PMID:29976973
Abstract

BACKGROUND

Little is known about the genetic background of urinary tract infection (UTI) in children.

METHODS

In this study, vitamin D receptor (VDR) gene polymorphisms were compared between 60 children with UTI (case group) and 60 healthy children (control group). DNA extraction, polymerase chain reaction, and the restriction fragment length polymorphism methods were used to perform the genetic analysis.

RESULTS

There was a significant difference between the case and control groups for VDR gene, ApaI and Bsml, polymorphisms (P < 0.05). The frequency of VDR Bb, bb, Aa, and aa genotypes, and the b and a alleles in the case group was significantly higher than that in the control group (P < 0.05). A significant difference was also found between lower UTI and acute pyelonephritis groups for the VDR Apal and Bsml genotypes (P < 0.05). There was no significant difference between children with first UTI and those with more than one UTI for VDR gene polymorphisms (P > 0.05).

CONCLUSION

This study showed that there is a significant relationship between VDR gene, Apal and Bsml, polymorphisms and UTI in children. The results indicate that these polymorphisms may play a role in pathogenesis of UTI.

摘要

背景

儿童尿路感染(UTI)的遗传背景知之甚少。

方法

本研究比较了 60 例 UTI 患儿(病例组)和 60 例健康儿童(对照组)的维生素 D 受体(VDR)基因多态性。采用 DNA 提取、聚合酶链反应和限制性片段长度多态性方法进行遗传分析。

结果

VDR 基因 ApaI 和 Bsml 多态性在病例组和对照组之间存在显著差异(P<0.05)。病例组 VDR Bb、bb、Aa 和 aa 基因型及 b 和 a 等位基因的频率明显高于对照组(P<0.05)。VDR Apal 和 Bsml 基因型在 UTI 轻症组和急性肾盂肾炎组之间也存在显著差异(P<0.05)。而 VDR 基因多态性在首次 UTI 患儿和多次 UTI 患儿之间无显著差异(P>0.05)。

结论

本研究表明 VDR 基因、Apal 和 Bsml 多态性与儿童 UTI 之间存在显著关系。这些结果提示这些多态性可能在 UTI 的发病机制中起作用。

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