维生素 D 受体基因 FokI 多态性与埃及儿童 CAP 易感性的关联：一项多中心研究。

Association of vitamin D receptor gene FokI polymorphism and susceptibility to CAP in Egyptian children: a multicenter study.

机构信息

Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, Egypt.

Department of Pediatrics, Faculty of Medicine, Ain-Shams University, Cairo, Egypt.

出版信息

Pediatr Res. 2018 Nov;84(5):639-644. doi: 10.1038/s41390-018-0149-y. Epub 2018 Aug 15.

DOI:10.1038/s41390-018-0149-y

PMID:30135595

Abstract

BACKGROUND

Community-acquired pneumonia (CAP) is the leading cause of child deaths around the world. Recently, the vitamin D receptor (VDR) gene has emerged as a susceptibility gene for CAP.

OBJECTIVES

To evaluate the association of the VDR gene Fok I polymorphism with susceptibility to CAP in Egyptian children.

METHODS

This was a multicenter case-control study of 300 patients diagnosed with CAP, and 300 well-matched healthy control children. The VDR Fok I (rs2228570) polymorphism was genotyped by PCR-restriction fragment length polymorphism (RFLP), meanwhile serum 25-hydroxy vitamin D (25D) level was assessed using ELISA method.

RESULTS

The frequencies of the VDR FF genotype and F allele were more common in patients with CAP than in our control group (OR = 3.6; (95% CI: 1.9-6.7) for the FF genotype; P = 0.001) and (OR: 1.8; (95% CI: 1.4-2.3) for the F allele; P = 0.01). Patients carrying the VDR FF genotype had lower serum (25D) level (mean; 14.8 ± 3.6 ng/ml) than Ff genotype (20.6 ± 4.5 ng/ml) and the ff genotype (24.5 ± 3.7 ng/ml); P < 0.01.

CONCLUSION

The VDR gene Fok I (rs2228570) polymorphism confers susceptibility to CAP in Egyptian children.

摘要

背景

社区获得性肺炎（CAP）是全球儿童死亡的主要原因。最近，维生素 D 受体（VDR）基因已成为 CAP 的易感基因。

目的

评估 VDR 基因 Fok I 多态性与埃及儿童 CAP 易感性的关系。

方法

这是一项多中心病例对照研究，共纳入 300 例确诊为 CAP 的患儿和 300 例匹配良好的健康对照儿童。采用 PCR-限制性片段长度多态性（RFLP）方法检测 VDR Fok I（rs2228570）多态性，同时采用 ELISA 法检测血清 25-羟维生素 D（25D）水平。

结果

与对照组相比，CAP 患儿中 VDR FF 基因型和 F 等位基因的频率更高（FF 基因型的比值比（OR）=3.6；95%置信区间（CI）：1.9-6.7；P=0.001）和（F 等位基因的比值比（OR）=1.8；95%CI：1.4-2.3；P=0.01）。携带 VDR FF 基因型的患儿血清（25D）水平较低（平均值；14.8±3.6ng/ml），低于 Ff 基因型（20.6±4.5ng/ml）和 ff 基因型（24.5±3.7ng/ml）；P<0.01。