埃及儿童 FokI(rs2228570)而非 TaqI(rs731236)维生素 D 受体基因多态性与维生素 D 缺乏相关，增加其复杂性肺炎易感性：病例对照研究。
Increased susceptibility to complicated pneumonia among egyptian children with FokI (rs2228570), not TaqI (rs731236), vitamin D receptor gene polymorphism in association with vitamin D deficiency: a case-control study.
机构信息
Pediatrics Department, Faculty of Medicine, Ain Shams University, Cairo, 1156, Egypt.
Medical Genetics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
出版信息
BMC Pediatr. 2023 Aug 9;23(1):394. doi: 10.1186/s12887-023-04192-x.
BACKGROUND
Determining a genetic contribution to the development of complicated community-acquired pneumonia in children may help understand underlying pathogenesis. We aimed to investigate the association between two vitamin D receptor (VDR) gene polymorphisms, FokI and TaqI, and susceptibility to complicated pneumonia in Egyptian children compared to uncomplicated pneumonia. Associations with 25 hydroxy-vitamin D serum level were studied.
METHODS
This was a case-control study that included 320 participants divided into 2 groups: patients and controls. The patients' group included 100 children hospitalized with complicated pneumonia and 100 with uncomplicated pneumonia. 120 age and sex-matched apparently healthy children served as controls. The VDR FokI and TaqI polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. 25 hydroxy-vitamin D level was estimated in serum using ELISA.
RESULTS
Regarding FokI, homozygous CC genotype was more common in complicated (52%) than uncomplicated pneumonia (28%) and controls (10%) (OR = 65; 95%CI (5.13-822.63), p < 0.001) and (OR = 4.3; 95%CI (0.7-27.16), p = 0.003), respectively. Children carrying C allele possessed 3 higher odds for complicated than uncomplicated pneumonia (OR = 3.08; 95%CI (1.33-7.14), p < 0.001). Heterozygous CT genotype increased susceptibility to complicated pneumonia (OR = 13.7; 95%CI (4.6-40.1), p < 0.001), not uncomplicated pneumonia (OR = 1.56; 95%CI (0.86-2.85), p = 0.145). Among complicated pneumonia, vitamin D level was lower in CC (6.92 ± 2.6ng/ml) than CT (9.55 ± 3.2 ng/ml) and TT genotype carriers (13.13 ± 3.6ng/ml) (p < 0.001). There was no significant difference between patients and controls as regards TaqI genotypes and alleles.
CONCLUSION
In association with vitamin D deficiency, VDR gene FokI polymorphism, not TaqI, is a genetic risk factor for complicated pneumonia in Egyptian children.
背景
确定儿童社区获得性肺炎发病的遗传因素有助于了解其潜在发病机制。本研究旨在调查埃及儿童中维生素 D 受体（VDR）基因 FokI 和 TaqI 两个多态性与复杂性肺炎易感性的关系，并与单纯性肺炎进行比较。还研究了与 25-羟维生素 D 血清水平的相关性。
方法
这是一项病例对照研究，共纳入 320 名参与者，分为两组：患者组和对照组。患者组包括 100 名因复杂性肺炎住院的儿童和 100 名因单纯性肺炎住院的儿童。120 名年龄和性别匹配的健康儿童作为对照组。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测 VDR FokI 和 TaqI 多态性。采用酶联免疫吸附试验（ELISA）法检测血清 25-羟维生素 D 水平。
结果
就 FokI 而言，复杂型肺炎（52%）患儿的纯合 CC 基因型比单纯型肺炎（28%）和对照组（10%）更常见（OR=65；95%CI（5.13-822.63），p<0.001）和（OR=4.3；95%CI（0.7-27.16），p=0.003）。携带 C 等位基因的儿童发生复杂性肺炎的几率比单纯性肺炎高 3 倍（OR=3.08；95%CI（1.33-7.14），p<0.001）。杂合 CT 基因型增加了复杂性肺炎的易感性（OR=13.7；95%CI（4.6-40.1），p<0.001），但不增加单纯性肺炎的易感性（OR=1.56；95%CI（0.86-2.85），p=0.145）。在复杂性肺炎中，CC 基因型（6.92±2.6ng/ml）患儿的维生素 D 水平低于 CT（9.55±3.2ng/ml）和 TT 基因型（13.13±3.6ng/ml）患儿（p<0.001）。FokI 基因型与 TaqI 基因型和等位基因在患者和对照组之间无显著差异。
结论
与维生素 D 缺乏症相关，VDR 基因 FokI 多态性而非 TaqI 是埃及儿童复杂性肺炎的遗传危险因素。
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