RGD Reference Report - Association of vitamin D receptor gene polymorphisms and bronchopulmonary dysplasia. - Rat Genome Database

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Association of vitamin D receptor gene polymorphisms and bronchopulmonary dysplasia.

Authors: Koroglu, Ozge Altun  Onay, Huseyin  Cakmak, Bilin  Bilgin, Betul  Yalaz, Mehmet  Tunc, Seckin  Ozkinay, Ferda  Kultursay, Nilgun 
Citation: Koroglu OA, etal., Pediatr Res. 2014 Aug;76(2):171-6. doi: 10.1038/pr.2014.63. Epub 2014 May 5.
RGD ID: 13432055
Pubmed: PMID:24796371   (View Abstract at PubMed)
DOI: DOI:10.1038/pr.2014.63   (Journal Full-text)


BACKGROUND: Vitamin D and its receptor (VDR) have important roles in perinatal lung development. The aim of this study was to investigate the relationship between VDR gene polymorphism and bronchopulmonary dysplasia (BPD) in preterm infants.
METHODS: VDR Fok I, Bsm I, Apa I, and Taq I polymorphisms were genotyped using restriction fragment length polymorphism in 109 preterm infants (47 with BPD, 62 without BPD).
RESULTS: In univariate analysis, Ff (odds ratio (OR) = 3.937, P = 0.022, 95% confidence interval (CI) = 1.22-12.69) and ff (OR = 5.23, P = 0.004, 95% CI = 1.69-16.23) genotypes of Fok I were associated with the increased risk of BPD; whereas tt genotype of Taq 1 was associated with a protective effect against BPD (OR = 0.30, P = 0.04, 95% CI = 0.09-0.94). In multivariate logistic regression analysis, variant Fok 1 genotype increased risk of BPD (OR = 4.11, 95% CI = 1.08-15.68, P = 0.038) independent of patent ductus arteriosus, sepsis, mechanical ventilation, and surfactant treatment. Taq 1, Bsm 1, and Apa 1 polymorphisms did not have any effect.
CONCLUSION: After adjusting for multiple confounders, VDR Fok 1 polymorphism was associated with the increased frequency of BPD. Further studies are needed to assess the contribution of VDR signaling to the pathogenesis of BPD and to determine if VDR polymorphisms may be suitable for identifying infants at high risk for BPD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
bronchopulmonary dysplasia susceptibilityIAGP 13432055associated with Premature Birth more ...RGD 
bronchopulmonary dysplasia susceptibilityISOVDR (Homo sapiens)13432055; 13432055associated with Premature Birth more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Vdr  (vitamin D receptor)

Genes (Mus musculus)
Vdr  (vitamin D (1,25-dihydroxyvitamin D3) receptor)

Genes (Homo sapiens)
VDR  (vitamin D receptor)


Additional Information