2017
DOI: 10.1038/jhg.2017.75
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Genetic variants underlying vitamin D metabolism and VDR–TGFβ-1–SMAD3 interaction may impact on HCV progression: a study based on dbGaP data from the HALT-C study

Abstract: Vitamin D deficiency is prevalent in liver disease and vitamin D has been shown to decrease hepatic fibrosis through an anti-TGFβ-1/SMAD3 effect mediated by the vitamin D receptor. Thus, we hypothesized that genetic variants involved in vitamin D metabolism and/or VDR/TGFβ-1/SMAD3 interaction could impact on the progression of chronic HCV. We obtained or imputed genotypes for 40 single nucleotide polymorphisms (SNPs) located in genes implicated in vitamin D metabolism from the HALT-C cohort via dbGaP. The HALT… Show more

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Cited by 12 publications
(8 citation statements)
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“…The relationship between liver fibrosis progression and the presence of VDR polymorphisms (ApaI, TaqI and BsmI) has been investigated, indicating that in PBC patients, BsmI and TaqI were associated with progressive cirrhosis 10 and in NAFLD patients, VDR mRNA expression and profibrogenic genes were significantly affected by BsmI polymorphism 18 . The effect of bAt haplotype in fibrosis progression has been investigated in HCV patients as well, giving conflicting results 18 , 19 , 32 . Our results indicate that the presence of ApaI polymorphism (AA genotype) is related to significant higher levels of IL-1β and IL-8.…”
Section: Discussionmentioning
confidence: 99%
“…The relationship between liver fibrosis progression and the presence of VDR polymorphisms (ApaI, TaqI and BsmI) has been investigated, indicating that in PBC patients, BsmI and TaqI were associated with progressive cirrhosis 10 and in NAFLD patients, VDR mRNA expression and profibrogenic genes were significantly affected by BsmI polymorphism 18 . The effect of bAt haplotype in fibrosis progression has been investigated in HCV patients as well, giving conflicting results 18 , 19 , 32 . Our results indicate that the presence of ApaI polymorphism (AA genotype) is related to significant higher levels of IL-1β and IL-8.…”
Section: Discussionmentioning
confidence: 99%
“…The GC rs222020 variant is related to the risk of rickets (Zhang et al, 2013a). Additionally, the HALT-C study followed 692 chronic HCV patients after Peg-IFN therapy over 4 years, and the GC rs222020 variant was associated with worsening liver fibrosis (de Azevedo et al, 2017). However, this study did not investigate the effect of the GC variants on the virological response after treatment.…”
Section: Discussionmentioning
confidence: 99%
“…Було У літературі є відомості про участь ВD у регуляції функцій жіночої репродуктивної системи. Найчастіше описується статус ВD у пацієнток із синдромом полікістозних яєчників, ендометріозом, лейоміомою матки, а також його рівень пов'язують із результатом екстракорпорального запліднення [14][15][16][17]. Незважаючи на те що статус ВD у дітей і підлітків вивчається багатьма дослідниками, його вплив на формування менструальної функції та її порушення в періоді пубертату вивчений недостатньо, про що свідчать поодинокі роботи [18,19].…”
Section: вступunclassified