Association between vitamin D plasma concentrations and VDR gene variants and the risk of premature birth

Author(s)

Dutra, Leticia Verissimo ^[1] ; Affonso-Kaufman, Fernando Alves ^[2] ; Cafeo, Fernanda Ramires ^[2] ; Kassai, Milene Saori ^[3] ; Barbosa, Caio Parente ^[4] ; Santos Figueiredo, Francisco Winter ^[1] ; Suano-Souza, Fabiola Isabel ^[3] ; Bianco, Bianca ^{[2, 4]}

Affiliation

^[1] Fac Med ABC, Postgrad Program Hlth Sci, Santo Andre, SP - Brazil

^[2] Fac Med ABC, Santo Andre, SP - Brazil

^[3] Fac Med ABC, Dept Pediat, Discipline Pediat, Santo Andre, SP - Brazil

^[4] Fac Med ABC, Dept Collect Hlth, Discipline Sexual & Reprod Hlth & Populat Genet, Santo Andre, SP - Brazil

• Document type: Journal article
• Source: BMC PREGNANCY AND CHILDBIRTH; v. 20, n. 1 DEC 31 2019.
• Web of Science Citations: 0

Abstract

Background Premature birth is the main cause of mortality in children under 1 year, and vitamin D deficiency during gestation is associated with prematurity. The effects of vitamin D are mediated by its receptor, which is encoded by the VDR gene. VDR variants-such as single nucleotide variation (SNV)-are associated with increased risk of prematurity, but there are conflicting results. We evaluated serum vitamin D concentrations and the frequency of TaqI/A > G, BsmI/C > T, ApaI/C > A, and FokI/A > T VDR variants in mothers and preterm (PTN) and full-term (FTN) newborns. Methods We conducted a case-control study comprising 40 pairs of mothers and their PTNs (gestational age < 32 weeks and/or weight < 1500 g), and 92 pairs of mothers and FTNs as controls. Genotyping was performed by real-time PCR, and plasma vitamin D concentrations were measured by electrochemiluminescence. Results Vitamin D levels were significantly lower in PTN mothers. Genotypes TaqI/GG and BsmI/TT, and haplotypes AAG (TaqI/A-ApaI/A-FokI/G) and GCA (TaqI/G-ApaI/C-FokI/A) were significantly more frequent in PTN mothers, and genotypes TaqI/AG, ApaI/AA, and FokI/AG resulted in significantly lower vitamin D levels. Genotypes BsmI/TT and ApaI/AA were associated with vitamin D deficiency and 2.36 and 7.99 times greater likelihood of PTB, respectively. Vitamin D levels were also lower in PTNs, although it was not statistically significant. Genotypes BsmI/TT, ApaI/AA, and FokI/GG, and haplotype GAG (TaqI/G-ApaI/A-FokI/G) were significantly more frequent in PTNs. Those with FokI/GG genotypes had significantly lower vitamin D levels. Conclusions VDR variants contribute to variations in vitamin D concentrations and the increased risk of prematurity. (AU)

• FAPESP's process: 15/15399-1 - Evolution of vitamin D concentrations in hospitalized preterm infants
• Grantee: Fabíola Isabel Suano de Souza
• Support Opportunities: Regular Research Grants