Maternal–fetal vitamin D receptor polymorphisms significantly associated with preterm birth

Rosenfeld, Talya; Salem, Hagit; Altarescu, Gheona; Grisaru‐Granovsky, Sorina; Tevet, Aharon; Birk, Ruth

doi:10.1007/s00404-017-4412-y

Cited by 22 publications

(33 citation statements)

References 43 publications

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Section: Discussionmentioning

confidence: 85%

“…The results of this study, controlled for confounding factors, indicate the negative effect of the homozygous maternal profile for the low‐frequency CC allele in the SNP ApaI, because it is associated with a shorter duration of gestation (Rosenfeld et al, ). Similar results were obtained in a study carried out in Israel, and it was observed that the frequency of the polymorphic allele in ApaI differed between term and preterm (Rosenfeld et al, ). Women with the AA and CC homozygous genotypes of the ApaI SNP were found to be at increased risk for preterm deliveries compared to the heterozygote (CA) group, after adjusting for confounding factors (Manzon et al, ).…”

Section: Discussionmentioning

confidence: 85%

“…Therefore, homozygosity for the low‐frequency allele (CC) of the ApaI SNP contributes to the occurrence of preterm births. This conclusion is supported by the fact that placental VDR expression is influenced by the mother's genotypes (Rosenfeld et al, ).…”

Section: Discussionmentioning

confidence: 91%

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Polymorphism in the vitamin D receptor gene is associated with maternal vitamin D concentration and neonatal outcomes: A Brazilian cohort study

Pereira

Carvalho

Louro

et al. 2019

American J Hum Biol

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Objectives: This study evaluated the associations between single-nucleotide polymorphisms (SNPs) of the vitamin D receptor (VDR) gene, maternal vitamin D concentration, and gestational outcomes. Methods: The cohort consisted of 270 pregnant women who received prenatal services at basic public healthcare centers in the city of Santo Antônio de Jesus, Bahia, Brazil. For statistical analysis, multiple linear regression was used. Results: A mean of 72.62 (SD = 31.51) nmol/L for 25-hydroxyvitamin D (25(OH) D) concentrations was found. The mean birth weight was 3.340 g (SD = 0.545 g), and the mean duration of gestation was 38.66 (SD = 1.83) weeks. Pregnant women who were homozygous for the low-frequency allele GG of SNP TaqI had a higher concentration of vitamin D during gestation (β = 14.09 nmol/L; 95% CI = 0.85, 27.34) than the higher frequency homozygotes AA (β = 3.33 nmol/L; 95% CI = −4.37, 11.05). The children of heterozygous women for the ApaI SNP (GA) were born with a lower weight (β = −131.99 g, 95% CI = −258.50, −5.47, P = .04). The heterozygote genotype of the SNP TaqI (CA) decreased the risk of short duration of gestation (β = 0.54 weeks, 95% CI = 0.09, 0.99, P = .01), and the homozygote for the lower frequency allele in the SNP ApaI (CC) showed a negative effect, decreasing the duration of gestation (β = −0.69 weeks, 95% CI = −1.35, −0.26, P = .04). Conclusions: The VDR gene is an important genetic predictor of a higher concentration of vitamin D during gestation, low birth weight, and decreasing duration of gestation.

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Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 85%

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Polymorphism in the vitamin D receptor gene is associated with maternal vitamin D concentration and neonatal outcomes: A Brazilian cohort study

Pereira

Carvalho

Louro

et al. 2019

American J Hum Biol

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“…Alterations in the VDR gene can lead to important defects in gene activation that can affect calcium metabolism [10], cell proliferation [8,16], and immune function [8]. The most studied VDR gene single nucleotide variation (SNV) related to clinical outcomes are ApaI, BsmI, FokI, and TaqI [17][18][19][20][21][22].…”

Section: Introductionmentioning

confidence: 99%

“…Studies have produced conflicting results regarding the association between VDR gene variants and prematurity [17][18][19][20][21][22]. Different allelic frequencies among the populations arise from different genetic ancestries, so the racial origins of the studied population may be responsible for the divergent results.…”

Section: Introductionmentioning

confidence: 99%

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

Dutra

Affonso-Kaufman

Cafeo

et al. 2019

BMC Pregnancy Childbirth

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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 fullterm (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 realtime 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.

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Impact of vitamin D on maternal and fetal health: A review

Arshad

Sameen

Murtaza

et al. 2022

Food Science & Nutrition

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The role of vitamin D in improving maternal health and reducing the risk of developmental disorders in fetus has been an important domain of research since the past few years. Vitamin D, owing to its immunomodulatory, anti‐inflammatory, developmental roles, and regulating calcium homeostasis, is predicted to have a significant influence on maternal and fetal health status. Several observational studies and clinical trials, determining the impact of vitamin D on gestational diabetes, C‐section, postpartum depression, pre‐eclampsia, miscarriages, and preterm delivery, have been elaborated in this review. In addition, fetal birth defects including neurological development, reduced birth weight, respiratory infections, bone development, and altered anthropometrics have also been summarized with available evidences. Other important mechanisms related to the roles of vitamin D in the body are also explained. Furthermore, recent studies determining the effect of vitamin D at genetic level will also help in understanding and future design of research in the area of maternal and fetal health.

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Maternal–fetal vitamin D receptor polymorphisms significantly associated with preterm birth

Abstract: We show association between maternal and fetal VDR genotype variants with PTB.

Cited by 22 publications

References 43 publications

Polymorphism in the vitamin D receptor gene is associated with maternal vitamin D concentration and neonatal outcomes: A Brazilian cohort study

Polymorphism in the vitamin D receptor gene is associated with maternal vitamin D concentration and neonatal outcomes: A Brazilian cohort study

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

Impact of vitamin D on maternal and fetal health: A review

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