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Prognostic significance of vitamin D receptor (VDR) gene polymorphisms in liver cirrhosis.

ABSTRACT: Several polymorphisms in the vitamin D receptor (VDR) are associated with the occurrence of chronic liver disease. Here, we investigated the association between BsmI, ApaI, TaqI and FokI VDR polymorphisms and the severity of liver cirrhosis in relation to serum cytokine and lipopolysaccharide binding protein (LBP) levels and their role on survival in cirrhotic patients. We found that patients harboring the BB genotype had higher MELD score, and they were mainly at CP stage C; patients harboring the AA genotype had increased LBP, IL-1? and IL-8 levels, and they were mostly at CP stage C; TT genotype carriers had higher MELD score and they were mainly at CP stage C and FF genotype carriers had lower IL-1? levels when compared to Bb/bb, Aa/aa, Tt/tt and Ff/ff genotypes respectively. In the multivariate analysis ApaI, BsmI and TaqI polymorphisms were independently associated with liver cirrhosis severity. In the survival analysis, the independent prognostic factors were CP score, MELD and the FF genotype. Our results indicate that the ApaI, TaqI and BsmI polymorphisms are associated with the severity of liver cirrhosis, through the immunoregulatory process. Survival is related to the FF genotype of FokI polymorphism, imparting a possible protective role in liver cirrhosis.

SUBMITTER: Triantos C

PROVIDER: S-EPMC6138740 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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Prognostic significance of vitamin D receptor (VDR) gene polymorphisms in liver cirrhosis.

Triantos Christos C Aggeletopoulou Ioanna I Kalafateli Maria M Spantidea Panagiota I PI Vourli Georgia G Diamantopoulou Georgia G Tapratzi Dimitra D Michalaki Marina M Manolakopoulos Spilios S Gogos Charalambos C Kyriazopoulou Venetsana V Mouzaki Athanasia A Thomopoulos Konstantinos K

Scientific reports 20180914 1

Several polymorphisms in the vitamin D receptor (VDR) are associated with the occurrence of chronic liver disease. Here, we investigated the association between BsmI, ApaI, TaqI and FokI VDR polymorphisms and the severity of liver cirrhosis in relation to serum cytokine and lipopolysaccharide binding protein (LBP) levels and their role on survival in cirrhotic patients. We found that patients harboring the BB genotype had higher MELD score, and they were mainly at CP stage C; patients harboring ...[more]

PMID: 30218108

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Project description:Objective: Vitamin D receptor (VDR) mediates vitamin D activity. We examined whether VDR expression in excised melanoma tissues is associated with VDR gene (VDR) polymorphisms.Methods: We evaluated VDR protein expression (by monoclonal antibody immunostaining), melanoma characteristics, and carriage of VDR-FokI-rs2228570 (C>T),VDR-BsmI-rs1544410 (G>A),VDR-ApaI-rs7975232 (T>G), andVDR-TaqI-rs731236 (T>C) polymorphisms (by restriction fragment length polymorphism). Absence or presence of restriction site was denoted by a capital or lower letter, respectively: " F" and " f" for FokI, " B" and " b" for BsmI, " A" and " a" for ApaI, and " T" and " t" for TaqI endonuclease. Seventy-four Italian cutaneous primary melanomas (52.1±12.7 years old) were studied; 51.4% were stage I, 21.6% stage II, 13.5% stage III, and 13.5% stage IV melanomas. VDR expression was categorized as follows: 100% positivevs. <100%; over the median 20% (high VDR expression) vs. ≤20% (low VDR expression); absence vs. presence of VDR-expressing cells.Results: Stage I melanomas, Breslow thickness of <1.00 mm, level II Clark invasion, Aa heterozygous genotype, and AaTT combined genotype were more frequent in melanomas with high vs. low VDR expression. Combined genotypes BbAA, bbAa, AATt, BbAATt, and bbAaTT were more frequent in 100% vs. <100% VDR-expressing cells. Combined genotype AATT was more frequent in melanomas lacking VDR expression (odds ratio=14.5; P=0.025). VDR expression was not associated with metastasis, ulceration, mitosis >1, regression, tumor-infiltrating lymphocytes, tumoral infiltration of vascular tissues, additional skin and non-skin cancers, and melanoma familiarity.Conclusions: We highlighted that VDR polymorphisms can affect VDR expression in excised melanoma cells. Low VDR expression in AATT carriers is a new finding that merits further study. VDR expression possibly poses implications for vitamin D supplementation against melanoma. VDR expression and VDR genotype may become precise medicinal tools for melanoma in the future.

Project description:Introduction: Studies on the association between gene polymorphisms of various inflammatory factors and liver cirrhosis have been inconsistent. The purpose of this study was to comprehensively summarize the available evidence on the association between gene polymorphisms of inflammatory factors and liver cirrhosis through a systematic review. Methods: We searched databases of PubMed, EMBASE, Web of Science, and the Cochrane Library for relevant articles published from building databases to 25 September 2022. A systematic review and meta-analysis were performed to investigate the association between gene polymorphisms of various inflammatory factors and liver cirrhosis. Odds ratios (OR) and 95% confidence intervals (CI) were used to assess the strength of association. Results: A total of 43 articles were included in the systematic review and of them, 22 articles were included in the meta-analysis. The gene polymorphisms of IL-10-1082 GA + AA vs. GG (OR = 1.43, 95% CI = 1.12-1.83), IL-10-1082 AA vs. GG (OR = 2.03, 95% CI = 1.36-3.02), IL-18 -137 GG vs. CC (OR = 3.84, 95% CI = 1.29-11.40), TGF-β1 -509 T vs. C (OR = 2.52, 95% CI = 1.42-4.48), and IFN-γ +874 T vs. A (OR = 1.98, 95% CI = 1.32-2.98) were associated with liver cirrhosis significantly and no association was observed in other gene polymorphisms included in the meta-analysis. The review of inflammatory factors gene polymorphisms that were only reported by a single study indicated 19 gene polymorphisms were risk factors and 4 gene polymorphisms were protective factors for liver cirrhosis, while the association between other 27 gene polymorphisms and liver cirrhosis were not statistically significant. Discussion: This study suggests that IL-10 -1082G/A, IL-18 -137G/C, TGF-β1 -509T/C, and IFN-γ +874T/A were potentially associated with the risk of liver cirrhosis susceptibility. These findings may provide comprehensive evidence for genetic susceptibility and immunogenetic pathology of liver cirrhosis.

Dataset Information

Prognostic significance of vitamin D receptor (VDR) gene polymorphisms in liver cirrhosis.

Publications

Prognostic significance of vitamin D receptor (VDR) gene polymorphisms in liver cirrhosis.

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