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Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications

The vitamin D receptor (VDR), coded by the VDR gene, plays a pivotal role in executing cellular functions when bound by the active form of vitamin D. Gene polymorphisms in this receptor have been increasingly associated with a heightened state of vulnerability to certain diseases. However, limited d...

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Autores principales: Kosik, Katarzyna, Szpecht, Dawid, Al-Saad, Salwan R., Karbowski, Lukasz M., Kurzawińska, Grażyna, Szymankiewicz, Marta, Drews, Krzysztof, Wolski, Hubert, Seremak-Mrozikiewicz, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7713052/
https://www.ncbi.nlm.nih.gov/pubmed/33273558
http://dx.doi.org/10.1038/s41598-020-78125-4
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author Kosik, Katarzyna
Szpecht, Dawid
Al-Saad, Salwan R.
Karbowski, Lukasz M.
Kurzawińska, Grażyna
Szymankiewicz, Marta
Drews, Krzysztof
Wolski, Hubert
Seremak-Mrozikiewicz, Agnieszka
author_facet Kosik, Katarzyna
Szpecht, Dawid
Al-Saad, Salwan R.
Karbowski, Lukasz M.
Kurzawińska, Grażyna
Szymankiewicz, Marta
Drews, Krzysztof
Wolski, Hubert
Seremak-Mrozikiewicz, Agnieszka
author_sort Kosik, Katarzyna
collection PubMed
description The vitamin D receptor (VDR), coded by the VDR gene, plays a pivotal role in executing cellular functions when bound by the active form of vitamin D. Gene polymorphisms in this receptor have been increasingly associated with a heightened state of vulnerability to certain diseases. However, limited data is available concerning the role of VDR gene polymorphisms in preterm infant complications. In 114 premature infants (< 32 weeks gestation) we analyze four single nucleotide VDR polymorphisms (rs2228570 (FokI), rs1544410 (BsmI), rs797532 (ApaI), rs731236 (TaqI)) for their association with respiratory distress syndrome (RDS), intraventricular hemorrhage (IVH), bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC) and retinopathy of prematurity (ROP). The results show that BPD was almost four times more likely in infants with the genotype CC of ApaI (rs7975232) (OR 3.845; p = 0.038). While both BPD and NEC were 2.1 times more likely to occur in preterm infants with the allele C of ApaI (rs7975232) (respectively: OR 2.111 and OR 2.129, p < 0.05). The ApaI VDR polymorphism appears to influence incidence of BPD and NEC in preterm infants. Considering VDR polymorphisms in future genetic investigations, in preterm complications, may prove clinically relevant.
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spelling pubmed-77130522020-12-03 Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications Kosik, Katarzyna Szpecht, Dawid Al-Saad, Salwan R. Karbowski, Lukasz M. Kurzawińska, Grażyna Szymankiewicz, Marta Drews, Krzysztof Wolski, Hubert Seremak-Mrozikiewicz, Agnieszka Sci Rep Article The vitamin D receptor (VDR), coded by the VDR gene, plays a pivotal role in executing cellular functions when bound by the active form of vitamin D. Gene polymorphisms in this receptor have been increasingly associated with a heightened state of vulnerability to certain diseases. However, limited data is available concerning the role of VDR gene polymorphisms in preterm infant complications. In 114 premature infants (< 32 weeks gestation) we analyze four single nucleotide VDR polymorphisms (rs2228570 (FokI), rs1544410 (BsmI), rs797532 (ApaI), rs731236 (TaqI)) for their association with respiratory distress syndrome (RDS), intraventricular hemorrhage (IVH), bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC) and retinopathy of prematurity (ROP). The results show that BPD was almost four times more likely in infants with the genotype CC of ApaI (rs7975232) (OR 3.845; p = 0.038). While both BPD and NEC were 2.1 times more likely to occur in preterm infants with the allele C of ApaI (rs7975232) (respectively: OR 2.111 and OR 2.129, p < 0.05). The ApaI VDR polymorphism appears to influence incidence of BPD and NEC in preterm infants. Considering VDR polymorphisms in future genetic investigations, in preterm complications, may prove clinically relevant. Nature Publishing Group UK 2020-12-03 /pmc/articles/PMC7713052/ /pubmed/33273558 http://dx.doi.org/10.1038/s41598-020-78125-4 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Kosik, Katarzyna
Szpecht, Dawid
Al-Saad, Salwan R.
Karbowski, Lukasz M.
Kurzawińska, Grażyna
Szymankiewicz, Marta
Drews, Krzysztof
Wolski, Hubert
Seremak-Mrozikiewicz, Agnieszka
Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications
title Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications
title_full Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications
title_fullStr Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications
title_full_unstemmed Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications
title_short Single nucleotide vitamin D receptor polymorphisms (FokI, BsmI, ApaI, and TaqI) in the pathogenesis of prematurity complications
title_sort single nucleotide vitamin d receptor polymorphisms (foki, bsmi, apai, and taqi) in the pathogenesis of prematurity complications
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7713052/
https://www.ncbi.nlm.nih.gov/pubmed/33273558
http://dx.doi.org/10.1038/s41598-020-78125-4
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