Potential role of vitamin D receptor-related polymorphisms in bronchopulmonary dysplasia

Walaa Alsharany Abuelhamd,Rehab El-Wakeel,Nancy Abdel Salam Gomaa,Alaa Gad

doi:10.1186/s43042-021-00148-x

Walaa Alsharany Abuelhamd, Rehab El-Wakeel + Show 2 more

Open Access

https://doi.org/10.1186/s43042-021-00148-x

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Abstract

BackgroundThe potential contribution of vitamin D and its receptor (VDR) to bronchopulmonary dysplasia (BPD) in preterm neonates is still unknown. The objective of the study was to test the relationship between VDR Taq 1 and Fok 1 gene polymorphisms and BPD in preterm neonates. VDR Fok 1 and Taq 1 gene polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.ResultNo statistically significant differences of genotypic distributions and allele frequencies of Fok 1 and Taq 1 VDR polymorphisms were detected between cases and controls. Moreover, no risk association was detected between both polymorphisms and BPD development in preterm neonates. Homozygous mutant (ff) genotype was the least frequent genotype among BPD and non-BPD groups (2.6%, 13.0% respectively) (p = 0.1). The same was detected for the mutant (CC) genotype frequency in both groups (10.5% and 15.2%, respectively). However, Taq 1 VDR polymorphism was significantly associated with the severity of BPD, as the genotypes with mutant allele C (CC +CT) were more frequent among severe cases (52.2%).ConclusionFok 1and Taq 1 VDR polymorphisms have no role in BPD development in preterm neonates. However, the presence of a mutant allele of Taq 1 VDR polymorphism may be associated with a more severe form of the disease.

Highlights

The potential contribution of vitamin D and its receptor (VDR) to bronchopulmonary dysplasia (BPD) in preterm neonates is still unknown
Fok 1and Taq 1 VDR polymorphisms have no role in BPD development in preterm neonates
Detection of vitamin D receptor polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Genomic DNA of included subjects was isolated from ethylenediaminetetraacetic acid (EDTA)-treated whole blood, using a G-spin TM total DNA extraction kit

Summary

Introduction

The potential contribution of vitamin D and its receptor (VDR) to bronchopulmonary dysplasia (BPD) in preterm neonates is still unknown. The objective of the study was to test the relationship between VDR Taq 1 and Fok 1 gene polymorphisms and BPD in preterm neonates. Bronchopulmonary dysplasia (BPD) is a worldwide major challenging consequence of prematurity and has a significant heritability [1]. Another study reported that BPD incidence ranged from 20% in preterm infants up to 60% in extremely preterm infants who were born before 26 weeks of gestation [3]. The major inflammatory role in the pathogenesis of BPD due to prematurity and perinatal triggering factors has been. The effect of vitamin D on bone and mineral metabolism has been well-known through the role of the vitamin D receptor (VDR) that acts as a ligand-activated transcription factor [9].

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