Role of VDR gene polymorphisms with community acquired pneumonia in North Indian children: a case-control study

Area of Science:

• Genetics and Molecular Biology
• Pediatric Infectious Diseases
• Nutritional Immunology

Background:

• Community-acquired pneumonia (CAP) is a significant global child mortality cause.
• The vitamin D receptor (VDR) gene influences inflammatory responses relevant to infection outcomes.
• Investigating VDR gene polymorphisms may reveal insights into CAP susceptibility.

Purpose of the Study:

• To examine the association between VDR gene polymorphisms (ApaI, FokI, TaqI, BsmI) and CAP in young children.
• To identify specific VDR gene variants that may predispose children to CAP.

Main Methods:

• A case-control study involving 160 hospitalized children with CAP and 160 age-matched healthy controls.
• VDR gene polymorphisms (ApaI, FokI, TaqI, BsmI) were genotyped using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
• Exclusion criteria included cystic fibrosis and congenital heart disease.

Main Results:

• The FokI (rs2228570) polymorphism showed a significant association with CAP risk.
• Specifically, the heterozygous genotype (CT) [OR=2.06] and the mutant allele (T) [OR=1.45] of FokI were linked to an increased risk of CAP.
• No significant associations were found for ApaI, TaqI, or BsmI polymorphisms with CAP.

Conclusions:

• The FokI polymorphism in the VDR gene is associated with an increased risk of community-acquired pneumonia in Indian children.
• These findings suggest that VDR gene variations could play a role in the pathogenesis of CAP in pediatric populations.
• Further research is warranted to elucidate the precise mechanisms linking VDR FokI polymorphism to CAP susceptibility.