Chair and Department of Neonatology, Poznan University of Medical Sciences, Poznan, Poland.
Poznan University of Medical Sciences, Poznan, Poland.
Sci Rep. 2020 Dec 3;10(1):21098. doi: 10.1038/s41598-020-78125-4.
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.
维生素 D 受体 (VDR) 由 VDR 基因编码，当与维生素 D 的活性形式结合时，在执行细胞功能方面发挥着关键作用。该受体中的基因多态性与某些疾病的易感性增加有关。然而，关于 VDR 基因多态性在早产儿并发症中的作用，相关数据有限。我们在 114 名早产儿（<32 周妊娠）中分析了四个单核苷酸 VDR 多态性（rs2228570（FokI）、rs1544410（BsmI）、rs797532（ApaI）、rs731236（TaqI）），以研究它们与呼吸窘迫综合征 (RDS)、脑室内出血 (IVH)、支气管肺发育不良 (BPD)、坏死性小肠结肠炎 (NEC) 和早产儿视网膜病变 (ROP) 的关系。结果表明，ApaI(rs7975232) 的 CC 基因型的婴儿发生 BPD 的可能性几乎增加了四倍（OR 3.845；p=0.038）。而 BPD 和 NEC 在携带 ApaI(rs7975232) 的等位基因 C 的早产儿中发生的可能性分别增加了 2.1 倍（OR 分别为 2.111 和 OR 2.129，p<0.05）。VDR 多态性似乎影响了早产儿 BPD 和 NEC 的发生率。考虑到 VDR 多态性在未来的遗传研究中，可能在早产儿并发症中具有临床相关性。
