<i>CYP24A1</i>and<i>CYP27B1</i>Polymorphisms, Concentrations of Vitamin D Metabolites, and Odds of Colorectal Adenoma Recurrence

Hibler, Elizabeth A.; Klimentidis, Yann C.; Jurutka, Peter W.; Kohler, Lindsay N.; Lance, Peter; Roe, Denise J.; Thompson, Patricia A.; Jacobs, Elizabeth T.

doi:10.1080/01635581.2015.1068818

Cited by 27 publications

(18 citation statements)

References 45 publications

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“…With respect to CYP27B1 and CYP24A1 SNPs, adequate information on their relationship with melanomagenesis is missing; however, it is possible as described for other tumors. 228–230 Unfortunately, to the best of our knowledge there is a lack of information on the association between SNPs of CYP11A1 and melanoma, and with cancer in general. Also, there is a lack of information on alternative splicing of VDR, CYP27B1, CYP24A1 , and CYP11A1 gene transcripts and the role the resulting proteins may have in melanomagenesis.…”

Section: Vitamin D and Melanoma: Clinical Implicationsmentioning

confidence: 99%

Vitamin D signaling and melanoma: role of vitamin D and its receptors in melanoma progression and management

Slominski

Brożyna

Żmijewski

et al. 2017

Laboratory Investigation

118

128

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Ultraviolet B (UVB), in addition to having carcinogenic activity, is required for the production of vitamin D3 (D3) in the skin which supplies >90% of the body's requirement. Vitamin D is activated through hydroxylation by 25-hydroxylases (CYP2R1 or CYP27A1) and 1α-hydroxylase (CYP27B1) to produce 1,25(OH)2D3, or through the action of CYP11A1 to produce mono-di- and trihydroxy-D3 products that can be further modified by CYP27B1, CYP27A1, and CYP24A1. The active forms of D3, in addition to regulating calcium metabolism, exert pleiotropic activities, which include anticarcinogenic and anti-melanoma effects in experimental models, with photoprotection against UVB-induced damage. These diverse effects are mediated through an interaction with the vitamin D receptor (VDR) and/or as most recently demonstrated through action on retinoic acid orphan receptors (ROR)α and RORγ. With respect to melanoma, low levels of 25(OH)D are associated with thicker tumors and reduced patient survival. Furthermore, single-nucleotide polymorphisms of VDR and the vitamin D-binding protein (VDP) genes affect melanomagenesis or disease outcome. Clinicopathological analyses have shown positive correlation between low or undetectable expression of VDR and/or CYP27B1 in melanoma with tumor progression and shorter overall (OS) and disease-free survival (DFS) times. Paradoxically, this correlation was reversed for CYP24A1 (inactivating 24-hydroxylase), indicating that this enzyme, while inactivating 1,25(OH)2D3, can activate other forms of D3 that are products of the non-canonical pathway initiated by CYP11A1. An inverse correlation has been found between the levels of RORα and RORγ expression and melanoma progression and disease outcome. Therefore, we propose that defects in vitamin D signaling including D3 activation/inactivation, and the expression and activity of the corresponding receptors, affect melanoma progression and the outcome of the disease. The existence of multiple bioactive forms of D3 and alternative receptors affecting the behavior of melanoma should be taken into consideration when applying vitamin D management for melanoma therapy.

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Section: Vitamin D and Melanoma: Clinical Implicationsmentioning

confidence: 99%

Vitamin D signaling and melanoma: role of vitamin D and its receptors in melanoma progression and management

Slominski

Brożyna

Żmijewski

et al. 2017

Laboratory Investigation

118

128

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“…When selecting SNPs (single-nucleotide polymorphisms), we aimed at choosing the ones previously reported to be associated with vitamin D-related traits in addition to a few SNPs we wanted to explore [5]. These SNPs were selected from genes associated with vitamin D and included cytochrome P450 family 2, R (CYP2R1) [5,[22][23][24][25][26][27], cytochrome P450 family 24 subfamily A member 1 (CYP24A1) [22,[27][28][29][30][31], the 1-alpha-hydroxylase (CYP27B1) [32][33][34][35], the 7-dehydrocholesterol reductase/NAD synthetase 1 (DHCR7/NADSYN1) [26,36], the vitamin D receptor (VDR) [37,38], and the vitamin D-binding protein GC (group-specific component) [20][21][22]26,28,39,40].…”

Section: Introductionmentioning

confidence: 99%

The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation

et al. 2020

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Background. Vitamin D deficiency represents a major healthcare problem. Vitamin D status is influenced by genetic and environmental determinants. Several observational studies have evaluated the association of single-nucleotide polymorphisms (SNPs) in vitamin D-related genes and vitamin D levels. Nevertheless, little is known about the role of these SNPs in the response to vitamin D supplementation. We conducted an interventional study to define the association between SNPs in vitamin D-related genes and the response to vitamin D supplementation in 100 self-reported healthy women of Arab ancestry for the majority. Methods. A total of 100 healthy female subjects received a weekly oral dose of 50,000 IU vitamin D for 12 weeks. Serum vitamin D concentration and metabolic profiles were measured at baseline and 12 weeks post-vitamin D supplementation. The genotypes of 37 SNPs selected from previously reported vitamin D-related genes have been assessed by Fluidigm genotyping assay. Results. Rs731236 (VDR gene) and rs7116978 (CYP2R1 gene) showed a significant association with vitamin D status. The rs731236 GG genotype and the rs7116978 CC genotype were associated with a “vitamin D sufficiency” state. Rs731236 GG and rs7116978 CC genotypes showed a higher response to vitamin D supplementation. Transcription factor binding site prediction analysis showed altered binding sites for transcription factors according to the different rs7116978 alleles. Interestingly, the 37 SNPs previously established to play a role in vitamin D-related pathways explained very little of the response to vitamin D supplementation in our cohort, suggesting the existence of alternative loci whose number and effect size need to be investigated in future studies. Conclusion. In this paper, we present novel data on vitamin D-related SNPs and response to vitamin D supplementation demonstrating the feasibility of applying functional genomic approaches in interventional studies to assess individual-level responses to vitamin D supplementation.

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“…In particular, CYP24A1 is a polymorphic version of the cytochrome enzyme genes, manifesting positive association with the 25-hydroxycholecalciferol [25(OH)D] (p=0.02). 51 More copies of the T allele in CYP24A1 rs927650 contribute to high recurrence of any colorectal adenomas, for heterozygotes (OR, 1.30; 95% CI, 0.99 to 1.70; p=0.04) and homozygotes (OR, 1.38; 95% CI, 1.01 to 1.89; p=0.04), respectively. 51 When the gene polymorphisms cooperate with vitamin D metabolites, the effect can be enhanced.…”

Section: Risk Factors For Recurrent Colorectal Polypsmentioning

confidence: 98%

Risk Factors for Recurrent Colorectal Polyps

Hao

Wang

et al. 2020

Gut and Liver

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The recurrence of colorectal polyps is caused by various factors and leads to the carcinogenesis of colorectal cancer, which ranks third in incidence and fourth in mortality among cancers worldwide. The potential risk factors for colorectal polyp recurrence have been demonstrated in multiple trials. However, an article that pools and summarizes the various results is needed. This review enumerates and analyzes some risk factors in terms of patient characteristics, procedural operations, polyp characteristics, and dietary aspects to propose some effective prophylactic measures. This review aimed to provide a reference for clinical application and guide patients to prevent colorectal polyp recurrence in a more effective manner.

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CYP24A1andCYP27B1Polymorphisms, Concentrations of Vitamin D Metabolites, and Odds of Colorectal Adenoma Recurrence

Cited by 27 publications

References 45 publications

Vitamin D signaling and melanoma: role of vitamin D and its receptors in melanoma progression and management

Vitamin D signaling and melanoma: role of vitamin D and its receptors in melanoma progression and management

The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation

Risk Factors for Recurrent Colorectal Polyps

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