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

Abuelhamd, Walaa Alsharany, Gomaa, Nancy Abdel Salam, Gad, Alaa and El-Wakeel, Rehab (2021) Potential role of vitamin D receptor-related polymorphisms in bronchopulmonary dysplasia. Egyptian Journal of Medical Human Genetics, 22 (41). pp. 1-10. ISSN 2090-2441


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. VDR Fok 1 and Taq 1 gene polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.

No 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%).

Fok 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.

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