Association of vitamin D receptor gene FokI polymorphism and susceptibility to CAP in Egyptian children: a multicenter study.
Level 4 - case-series / case-control
Case-control study
PubMed 30135595 · doi:10.1038/s41390-018-0149-y
What was done
A multicenter case-control study was conducted in Egypt involving 300 children diagnosed with community-acquired pneumonia (CAP) and 300 matched healthy controls. The vitamin D receptor (VDR) FokI (rs2228570) polymorphism was genotyped via PCR-restriction fragment length polymorphism (RFLP), and serum 25-hydroxyvitamin D [25(OH)D] levels were quantified using ELISA.
What was found
The VDR FF genotype was significantly more frequent in CAP cases than controls (OR = 3.6, 95% CI: 1.9–6.7, P = 0.001), as was the F allele (OR = 1.8, 95% CI: 1.4–2.3, P = 0.01). Among patients with CAP, those with the FF genotype had significantly lower mean serum 25(OH)D concentrations (14.8 ± 3.6 ng/ml) compared to the Ff genotype (20.6 ± 4.5 ng/ml) and the ff genotype (24.5 ± 3.7 ng/ml; P < 0.01).
Why it matters
This study provides evidence linking the VDR FokI variant to both decreased circulating vitamin D levels and higher risk of pediatric community-acquired pneumonia, highlighting a potential host genetic factor in respiratory infection susceptibility.
Limits
The retrospective case-control design cannot establish causality. The study evaluated only a single ethnic cohort (Egyptian children), and the abstract does not report data on clinical severity, causative pathogens, nutritional factors, or adjustment for all potential environmental confounders.
Cited by
- partial Children with a single nucleotide polymorphism in the vitamin D receptor have a higher mortality from respiratory tract infections.