Association between VDR Gene Polymorphisms and Melanoma Susceptibility in a Colombian Population

Aristizábal-Pachón, Andrés Felipe; González-Giraldo, Yeimy; García, Andrea Arias; Suarez, Dalia Xiomara; Rodríguez, A. Chapin; Santos, Janneth González

doi:10.31557/apjcp.2022.23.1.79

Cited by 2 publications

(2 citation statements)

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“…Since the discovery of VDR polymorphism a number of papers have been published studying VDR gene and the position of different SNPs and their role in various diseases (Table 1 , Fig. 3 ) [ 15 , 34 – 41 ].…”

Section: Vitamin D Receptor Polymorphismsmentioning

confidence: 99%

“… Caccamo et al [ 40 ] 2020 Italy Case control Fok I, Bsm I GH Significant association was found between Fok I and Bsm I with GH. Aristizabal-Pachon et al [ 41 ] 2022 Colombia Case control Fok I, Taq I Melanoma cancer Fok I polymorphism was associated with melonma cancer risk. Taq I polymorphism was associated with a protective effect against this cancer.…”

Section: Vitamin D Receptor Polymorphismsmentioning

confidence: 99%

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Fok I and Bsm I gene polymorphism of vitamin D receptor and essential hypertension: a mechanistic link

2023

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The vitamin D receptor (VDR) gene serves as a good candidate gene for susceptibility to essential hypertension. The gene regulates the renin angiotensin system by influencing blood pressure regulation. Around 3% of the human genome is regulated by the vitamin D endocrine system. Several studies have reported mixed results with respect to relationship of VDR gene and hypertension. Observational evidence supports the concept that vitamin D plays a role in the pathogenesis of cardiovascular disease and arterial hypertension which is further supported by meta-analysis and case control studies reporting how VDR polymorphism leads to the onset and development of hypertension. In this review, we summarize the existing literature on the link between VDR and hypertension, including mechanistic studies, observational data, and clinical trials showing relationship of vitamin D level and hypertension with a focus on recent findings related to genetic studies that showed the relationship of VDR gene polymorphism with vitamin D level in hypertensive and normotensive groups. As a result, determining the association of VDR polymorphisms with essential hypertension is expected to aid in the risk assessment for the condition.

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Section: Vitamin D Receptor Polymorphismsmentioning

confidence: 99%

Section: Vitamin D Receptor Polymorphismsmentioning

confidence: 99%

Fok I and Bsm I gene polymorphism of vitamin D receptor and essential hypertension: a mechanistic link

2023

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The relationship between single nucleotide polymorphisms and skin cancer susceptibility: A systematic review and network meta-analysis

Zhang

Pozsgai²,

Song³

et al. 2023

Front. Oncol.

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BackgroundSingle nucleotide polymorphisms (SNPs) interfere with the function of certain genes and thus may influence the probability of skin cancer. The correlation between SNPs and skin cancer (SC) lacks statistical power, however. Therefore, the purpose of this study was to identify the gene polymorphisms involved in skin cancer susceptibility using network meta-analysis and to determine the relationship between SNPs and SC risk.MethodsPubMed, Embase, and Web of Science were searched for articles including “SNP” and different types of SC as keywords between January 2005 and May 2022. The Newcastle-Ottawa Scale was used to assess bias judgments. The odds ratio (ORs) and their 95% confidence intervals (CIs) were determined to estimate heterogeneity within and between studies. Meta-analysis and network meta-analysis were carried out to identify the SNPs associated with SC. The P-score of each SNP was compared to obtain the rank of probability. Subgroup analyses were performed by cancer type.ResultsA total of 275 SNPs from 59 studies were included in the study. Two subgroup SNP networks using the allele model and dominant model were analyzed. The alternative alleles of rs2228570 (FokI) and rs13181 (ERCC2) were the first-ranking SNPs in both subgroups one and two of the allele model, respectively. The homozygous dominant genotype and heterozygous genotype of rs475007 in subgroup one and the homozygous recessive genotype of rs238406 in subgroup two were most likely to be associated with skin cancer based on the dominant model.ConclusionsAccording to the allele model, SNPs FokI rs2228570 and ERCC2 rs13181 and, according to the dominant model, SNPs MMP1 rs475007 and ERCC2 rs238406 are closely linked to SC risk.

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Association between VDR Gene Polymorphisms and Melanoma Susceptibility in a Colombian Population

Abstract: Mutations and polymorphisms in the vitamin D receptor gene (VDR) were highly correlated with melanoma and other types of cancer. VDR is a transcription factor that regulates the expression of several genes through

Cited by 2 publications

References 42 publications

Fok I and Bsm I gene polymorphism of vitamin D receptor and essential hypertension: a mechanistic link

Fok I and Bsm I gene polymorphism of vitamin D receptor and essential hypertension: a mechanistic link

The relationship between single nucleotide polymorphisms and skin cancer susceptibility: A systematic review and network meta-analysis

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