Single Nucleotide Polymorphisms in Vitamin D Receptor Gene Affect Birth Weight and the Risk of Preterm Birth: Results From the "Mamma & Bambino" Cohort and A Meta-Analysis.

Martina Barchitta,Andrea Maugeri,Antonella Agodi,Giuliana Favara,Maria La Rosa,Antonio Cianci,Marco Panella,Roberta Magnano San Lio

doi:10.3390/nu10091172

Abstract

The effect of vitamin D receptor gene (VDR) polymorphisms on adverse pregnancy outcomes—including preterm birth (PTB), low birth weight and small for gestational age—is currently under debate. We investigated 187 mother-child pairs from the Italian “Mamma & Bambino” cohort to evaluate the association of maternal VDR polymorphisms—BsmI, ApaI, FokI and TaqI—with neonatal anthropometric measures and the risk of PTB. To corroborate our results, we conducted a meta-analysis of observational studies. For the FokI polymorphism, we showed that gestational duration and birth weight decreased with increasing number of A allele (p = 0.040 and p = 0.010, respectively). Compared to the GG and GA genotypes, mothers who carried the AA genotype exhibited higher PTB risk (OR = 12.049; 95% CI = 2.606–55.709; p = 0.001) after adjusting for covariates. The meta-analysis confirmed this association under the recessive model (OR = 3.67, 95%CI 1.18–11.43), and also pointed out the protective effect of BsmI polymorphism against the risk of PTB under the allelic (A vs. G: OR = 0.74; 95%CI 0.59–0.93) and recessive (AA vs. GG + AG: OR = 0.62; 95%CI 0.43–0.89) models. Our results suggest the association between some maternal VDR polymorphisms with neonatal anthropometric measures and the risk of PTB.

Highlights

Adverse pregnancy outcomes continue to be major Public Health problems in spite of improvements in health care [1,2,3]
In the present study we used data and samples from this cohort to evaluate the association of maternal vitamin D receptor gene (VDR) polymorphisms (i.e., BsmI, ApaI, FokI and TaqI) with neonatal anthropometric measures and the risk of preterm birth (PTB), even considering dietary intake of vitamin D
The “Mamma & Bambino” cohort is an ongoing Italian birth cohort designed to explore the effect of preconception, perinatal and early life exposure on maternal and infant health

Summary

Introduction

Adverse pregnancy outcomes continue to be major Public Health problems in spite of improvements in health care [1,2,3]. Preterm birth (PTB) represents the first cause of death among newborns and the second among children under five years [4]. Organization (WHO) estimated that 15 million of children prematurely born each year—it means more than one out of ten infants—novel strategies and guidelines should be designed and validated to help prevent PTB. The effect of genetic susceptibility has been well recognized [9], with novel fetal and maternal genomic variants which in turn affect both intrauterine environment, pregnancy duration and fetal growth [10]

Methods

Findings

Discussion

Conclusion