FokI vitamin D receptor polymorphism as a protective factor in intrahepatic cholestasis of pregnancy

Wolski, Hubert; Kurzawińska, Grażyna; Ożarowski, Marcin; Drews, Krzysztof; Barlik, Magdalena; Piątek, Katarzyna; Malewski, Zbyszko; Mrozikiewicz, A; Magiełda-Stola, Justyna; Kolanowska, Dorota; Wolek, Marlena; Seremak‐Mrozikiewicz, Agnieszka

doi:10.5603/gp.a2020.0135

Cited by 4 publications

(4 citation statements)

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“…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

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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.

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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

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“…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

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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.

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“…VDR, expressed in the intestines, kidney and liver, is also activated by BAs. Recent reports have shown that VDR regulates BA transporters, and its polymorphic variants may affect individual susceptibility and quality of life in patients with IC, such as PBC or ICP [63,64]. However, the direct effects of VDR polymorphisms on the pathogenesis of IC are unclear.…”

Section: Vdrmentioning

confidence: 99%

Molecular mechanisms of transporter regulation and their impairment in intrahepatic cholestasis

et al. 2022

Acta Materia Medica

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Intrahepatic cholestasis (IC) is a liver disease caused by disorders in bile formation and excretion, owing to structural and functional abnormalities in hepatocytes and/or bile capillaries. IC is commonly caused by hepatitis virus, alcohol consumption, drug-induced liver damage, autoimmune liver disease and heredity. In the absence of effective treatment, IC can progress to liver fibrosis, cirrhosis and ultimately liver failure. However, the mechanisms underlying IC remain poorly understood. IC is believed to be closely associated with changes in the transcription, function and localization of hepatocellular transport proteins. To better understand the molecular mechanisms of transport proteins in IC, herein, we review the roles of these transport proteins and discuss their underlying regulatory mechanisms in IC. Our aim is to provide a reference for understanding IC pathogenesis and developing effective drug therapies.

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FokI vitamin D receptor polymorphism as a protective factor in intrahepatic cholestasis of pregnancy

Cited by 4 publications

References 0 publications

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

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

Molecular mechanisms of transporter regulation and their impairment in intrahepatic cholestasis

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