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

Egyptian Journal of Medical Human Genetics(2021)

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摘要
Background 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. Result 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%). Conclusion Fok 1 and 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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关键词
Bronchopulmonary dysplasia,Polymorphism,Premature neonates,Vitamin D receptor
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