Genetic variation in the maternal vitamin D receptor FokI gene as a risk factor for recurrent pregnancy loss

Barišić, Anita; Pereza, Nina; Hodžić, Alenka; Krpina, Milena Gašparović; Ostojić, Saša; Peterlin, Borut

doi:10.1080/14767058.2019.1660768

Cited by 12 publications

(8 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, some studies found no association with some of the genes namely IL‐1 (−31T, −511T, and +3954T) 38 ; IL‐6 (−174G/C) 36,68,69 ; IL‐18 (rs187238) 42 ; IL‐17 (−197 G/A) 36 ; IL‐10 (1082G>A), 70 −592C/A, 68 rs1800872, rs1800871, and rs1800896 37,42 . Likewise, no correlation was found in genetic variants of the gene TNF (−238G > A, −308G > A, −376G > and +252 G→A) 71,72 ; TGF (+869) 39 ; ESR1 (rs3020314) 43,47 ; rs9340799, rs2234693, rs3798759 73 ; VDR (rs11568820, rs731236) 44 ; ESR2 (rs207764, rs4986938, rs928554, rs1256049) 73 ; FOXP3 (−3279C/A, −20G/A) 46 ; and TAF1 (1040C/T) 74 …”

Section: Resultsmentioning

confidence: 98%

“…More than 65 genetic variants in 45 genes were identified that could be considered as risk factors for iRPL (Table 1). 13–59 The time frame of the sample is not mentioned in the studies because it does not involve a variable marker. Epigenetic factors, mainly microRNAs (miRNAs), that could also be considered as risk factors are compiled in Table 2 60–64 .…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Maternal candidate gene variants, epigenetic factors, and susceptibility to idiopathic recurrent pregnancy loss: A systematic review

Kaur

Chhabra³

et al. 2023

Intl J Gynecology & Obste

View full text Add to dashboard Cite

BackgroundRecurrent pregnancy loss is defined as the loss of two or more pregnancies and is a distressing condition for couples.ObjectiveTo investigate the relationship between variants in the candidate susceptibility genes and epigenetic factors to identify risk factors for idiopathic recurrent pregnancy loss (iRPL).Search StrategyA systematic literature search was performed using PubMed, Google Scholar, ScienceDirect, and Scopus databases. Insilico analysis was carried out using ShinyGO and STRING software.Selection CriteriaResearch papers examining the association between variations in genetic and epigenetic factors and iRPL.Data Collection and AnalysisData were independently extracted by two authors.Main ResultsIn total, 83 research papers were finally selected for the present study. Among all the genes involved in the pathogenesis of recurrent pregnancy loss, polymorphisms in IL superfamily genes, VEGF, ESR, and MTHFR were the most investigated.ConclusionPolymorphisms in angiogenesis, immune tolerance, and thrombophilia pathway genes, which occur independently or synergistically, may lead to various complications during fetal development. Identification of multi‐allele risk variants and epigenetic factors in women will be helpful in the identification of high‐risk pregnancies.Prospero Registration NumberProspero CRD42021287315.

show abstract

Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

Maternal candidate gene variants, epigenetic factors, and susceptibility to idiopathic recurrent pregnancy loss: A systematic review

Kaur

Chhabra³

et al. 2023

Intl J Gynecology & Obste

View full text Add to dashboard Cite

show abstract

“…18 Thus far, accumulating studies have shown VDR gene polymorphism is associated with some complications of pregnancy. 19 Previous studies have been shown that VDR polymorphism could be associated with the preterm labor, 20 recurrent miscarriages, 21,22 gestational cholestasis, 23 and Preeclampsia. 24,25 GDM may have the exact pathogenesis as these pregnancy complications.…”

Section: Discussionmentioning

confidence: 99%

Association between VDR genetic polymorphisms and risk of gestational diabetes mellitus in the Chinese population

Ma,

Zhang,

et al. 2023

American J Rep Immunol

View full text Add to dashboard Cite

Background and aimsAbnormal metabolism of vitamin D was the primary mechanism in many pregnancy diseases. Our study was the first to examine the hypothesis that VDR gene polymorphisms contribute to the risk of gestational diabetes mellitus (GDM) in the Chinese population at high altitudes.Materials and methodsOne hundred and eighteen women with GDM and 104 women with normal glucose tolerance (NGT) were included in this study using a case‐control design. Four single nucleotide polymorphisms (g.47879112G > A, g.47846052C > T, g.47844974A > G, and g.47845054C > A) of mother and fetus were genotyped.ResultsMaternal and fetal frequency of the A allele of g.47879112G > A was significantly increased in women with GDM than in those with NGT (p < .05). A correlation between the AA homozygous genotype of g.47879112G > A and GDM was noted. Compared with non‐carriers, A allele carriers showed higher fasting plasma insulin and two‐hour post‐challenge plasma glucose (2h‐PPG), and lower levels of vitamin D. Furthermore, both maternal and fetal 4‐marker haplotype ACCG were found to be significantly associated with GDM (p < .05).ConclusionsAssociation and haplotype analysis indicated that the A allele of g.47879112G > A could be a risk factor for GDM development in the Chinese population at high altitudes. Additionally, the VDR gene polymorphism of the fetus and mother may have a synergistic effect. The VDR polymorphism is associated with an increased risk of GDM and may be useful for predicting the development of the disease.

show abstract

“…Thus far, several publications have analyzed the relationship of VDR gene polymorphisms with the occurrence of certain complications in pregnancy [ 27 ]. It has been suggested that VDR polymorphism could be associated with the occurrence of gestational diabetes [ 51 , 52 , 53 ], preterm labor [ 54 ], recurrent miscarriages [ 55 , 56 ], gestational cholestasis [ 40 ], and intrauterine fetal restriction that often coexisted with PE and placental insufficiency [ 27 ]. Thus far, however, no unequivocal results have been obtained determining the importance of VDR gene variants in the pathways influencing the placenta function, regulating implantation, hormone secretion, or immune modulation.…”

Section: Discussionmentioning

confidence: 99%

The Significance of VDR Genetic Polymorphisms in the Etiology of Preeclampsia in Pregnant Polish Women

et al. 2021

View full text Add to dashboard Cite

For the first time in the Polish population, we aimed to investigate associations between the VDR gene single-nucleotide polymorphisms (SNPs) BsmI (rs15444410), ApaI (rs7975232), FokI (rs19735810), and TaqI (rs731236) and the development of preeclampsia (PE). A case–control study surveyed 122 preeclamptic and 184 normotensive pregnant women. The polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method was performed to examine the maternal VDR FokI, BsmI, TaqI, and ApaI polymorphisms. The VDR BsmIAA homozygous genotype was statistically significantly more frequent in preeclamptic women compared to the control group (p = 0.0263), which was also associated with a 2-fold increased risk of PE (OR = 2.06, p = 0.012). A correlation between the VDR BsmI polymorphism with systolic and diastolic blood hypertension was noted. Furthermore, 3-marker haplotype CTA (TaqI/ApaI/BsmI) was associated with significantly higher systolic (p = 0.0075) and diastolic (p = 0.0072) blood pressure. Association and haplotype analysis indicated that the VDR BsmI A allele could play a significant role in the PE pathomechanism and hence could be a risk factor for PE development in pregnant Polish women. These results indicate the importance of the VDR BsmI polymorphism and reveal that this variant is closely associated with a higher predisposition to hypertension.

show abstract

Genetic variation in the maternal vitamin D receptor FokI gene as a risk factor for recurrent pregnancy loss

Cited by 12 publications

References 34 publications

Maternal candidate gene variants, epigenetic factors, and susceptibility to idiopathic recurrent pregnancy loss: A systematic review

Maternal candidate gene variants, epigenetic factors, and susceptibility to idiopathic recurrent pregnancy loss: A systematic review

Association between VDR genetic polymorphisms and risk of gestational diabetes mellitus in the Chinese population

The Significance of VDR Genetic Polymorphisms in the Etiology of Preeclampsia in Pregnant Polish Women

Contact Info

Product

Resources

About