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

Katarzyna Kosik,Dawid Szpecht,Salwan R Al-Saad,Grażyna Kurzawińska,Agnieszka Seremak-Mrozikiewicz,Krzysztof Drews,Hubert Wolski,Marta Szymankiewicz,Lukasz M Karbowski

doi:10.1038/s41598-020-78125-4

Katarzyna Kosik, Dawid Szpecht + Show 7 more

Open Access

https://doi.org/10.1038/s41598-020-78125-4

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Journal: Scientific Reports	Publication Date: Dec 1, 2020
Citations: 9	License type: open-access

Affiliation: Poznan University of Medical Sciences

Abstract

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.

Highlights

In the human body, most of the utilized vitamin D is sourced by endogenous cutaneous production
Development of different types of cancers (ApaI polymorphism in the vitamin D receptor (VDR) gene may prove to be a good marker for the use of individualized chemotherapy in the treatment of non-small cell lung carcinoma)[8], autoimmune diseases9, diabetes10,11, asthma[12], cardiovascular diseases13, osteoporosis[14], and susceptibility to infection[15]
The infants were diagnosed according to stages of intraventricular hemorrhage (IVH); 20 (36.4%) newborns were diagnosed with IVH stage I, 25 (45.5%) with IVH stage II, 10 (18.2%) with stage III and no neonates with stage IV

Summary

Introduction

Most of the utilized vitamin D is sourced by endogenous cutaneous production. It is transformed to cholecalciferol, and after hydroxylation in the liver and kidneys—to calcitriol This active hormonal form binds to the vitamin D binding protein (VDBP) in the blood and reaches the target cell. Once it enters the cell, it attaches to VDR in the cytoplasm and constructs a combined complex. The most explored VDR polymorphisms are rs2228570 (FokI), rs1544410 (BsmI), rs797532 (ApaI), rs731236 (TaqI)[7]. The following work is centred to investigate VDR polymorphisms (FokI, BsmI, ApaI, TaqI) and their association with risk for neonatal complications such as respiratory distress syndrome, intraventricular hemorrhage, bronchopulmonary dysplasia, necrotizing enterocolitis and retinopathy of prematurity

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