Maternal vitamin D deficiency is considered to be the key determinant of the development of neonatal vitamin D deficiency at birth and during early infancy. Specific vitamin D receptor (VDR) gene polymorphisms have been associated with adverse pregnancy and offspring outcomes. The aim of this study was to evaluate the effect of maternal and neonatal VDR polymorphisms (ApaI, TaqI, BsmI, FokI, Tru9I) on maternal and neonatal vitamin D status. VDR polymorphisms were genotyped in 70 mother-neonate pairs of Greek origin, and classified according to international thresholds for Vitamin D status. Mean neonatal and maternal 25-hydroxy-vitamin D [25(OH)D] concentrations were 35 ± 20 and 47 ± 26 nmol/l, respectively. Neonatal VDR polymorphisms were not associated with neonatal 25(OH)D concentrations. In contrast, mothers with the Fokl FF polymorphism had a 70 % lower risk of vitamin D deficiency [25(OH)D <30 nmol/l] compared with ff ones, after adjustment for several confounders. They were also in 73 % and 88 % lower risk of giving birth to vitamin D deficient [25(OH)D <30 nmol/l] neonates compared with Ff and ff mothers, respectively. These results suggest a protective role of maternal Fokl FF genotype against both maternal and neonatal vitamin D deficiency. Further studies are needed to clarify the complex gene-gene and gene-environment interactions that determine vitamin D status at birth.

中文翻译：

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维生素D受体Fokl多态性是出生时母亲和新生儿维生素D浓度的决定因素。

孕妇维生素D缺乏被认为是新生儿和婴儿早期维生素D缺乏发展的关键因素。特定的维生素D受体（VDR）基因多态性与不良妊娠和后代结局有关。这项研究的目的是评估母体和新生儿VDR多态性（ApaI，TaqI，BsmI，FokI，Tru9I）对母体和新生儿维生素D状态的影响。VDR多态性在70对希腊血统的新生儿neonate对中进行了基因分型，并根据维生素D状况的国际阈值进行了分类。新生儿和孕妇的25-羟基维生素D [25（OH）D]的平均浓度分别为35±20和47±26 nmol / l。新生儿VDR多态性与新生儿25（OH）D浓度无关。相比之下，经过Fokl FF基因多态性分析的母亲，经调整一些混杂因素后，维生素D缺乏症的风险[25（OH）D <30 nmol / l]比ff母亲低70％。与Ff和ff母亲相比，他们出生维生素D缺乏[25（OH）D <30 nmol / l]新生儿的风险分别降低73％和88％。这些结果表明，母体Fokl FF基因型对母体和新生儿维生素D缺乏都有保护作用。需要进一步的研究来阐明决定出生时维生素D状态的复杂基因-基因和基因-环境相互作用。30 nmol / l]的新生儿分别与Ff和ff的母亲相比。这些结果表明，母体Fokl FF基因型对母体和新生儿维生素D缺乏都有保护作用。需要进一步的研究来阐明决定出生时维生素D状态的复杂基因-基因和基因-环境相互作用。30 nmol / l]的新生儿分别与Ff和ff的母亲相比。这些结果表明，母体Fokl FF基因型对母体和新生儿维生素D缺乏都有保护作用。需要进一步的研究来阐明决定出生时维生素D状况的复杂基因-基因和基因-环境相互作用。