Dataset Information

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

ABSTRACT:

Background

The vitamin D receptor (VDR) is responsible for mediating the effects of vitamin D through regulation of other gene transcriptions. There are several polymorphisms that alter the gene expression or the function of this protein. We aimed to analyze the association between two SNPs of VDR gene and melanoma cancer in Colombian patients.

Methods

We included 120 healthy individual as controls and 120 melanoma cancer patients as cases . Patients in both groups were matched in terms of gender and age. The genotyping of rs731236 and rs2228570 polymorphisms was performed using PCR-RFLP. The SNPStats program was used to carry out the statistical analysis through a logistic regression model.

Results

Under dominant model, we found that rs2228570 polymorphism was associated with melanoma cancer risk (C/C vs C/T-T/T, OR: 5.10, 95% CI: 2.85-9.14), whereas rs731236 polymorphism was associated with a protective effect against this cancer (T/T vs T/C, OR: 0.27, 95% CI: 0.14-0.53).

Conclusion

Our results suggested that both polymorphisms were involved in the development of melanoma cancer, increasing or decreasing this risk.

SUBMITTER: Aristizabal-Pachon AF

PROVIDER: S-EPMC9258646 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature

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Publications

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

Aristizabal-Pachon Andres Felipe AF Gonzalez-Giraldo Yeimy Y Garcia Angela Yazmin AY Suarez Dalia Xiomara DX Rodriguez Angela A Gonzalez-Santos Janneth J Gonzalez-Santos Janneth J

Asian Pacific journal of cancer prevention : APJCP 20220101 1

<h4>Background</h4>The vitamin D receptor (VDR) is responsible for mediating the effects of vitamin D through regulation of other gene transcriptions. There are several polymorphisms that alter the gene expression or the function of this protein. We aimed to analyze the association between two SNPs of VDR gene and melanoma cancer in Colombian patients.<h4>Methods</h4>We included 120 healthy individual as controls and 120 melanoma cancer patients as cases . Patients in both groups were matched i ...[more]

PMID: 35092374

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Project description:Background and Objectives: Rheumatoid arthritis (RA) is a chronic, inflammatory, autoimmune, multi-factorial disease, in which environmental and genetic factors play a major role. RA is possibly linked to vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms, and research demonstrates that FokI variant susceptibility is associated with increased disease risk among Caucasians. The aim of this study was to evaluate vitamin D deficiency prevalence and its correlation to RA clinical parameters, and to determine the possible association of VDR gene polymorphisms and RA susceptibility in the Lithuanian population. Materials and Methods: Overall, 206 RA patients and 180 age- and sex-matched healthy controls were enrolled at Vilnius University Hospital Santaros Klinikos after informed consent was obtained. The disease activity score 28 C-reactive protein (DAS28 CRP), rheumatoid arthritis impact of disease (RAID) score, and health assessment questionnaire (HAQ) were recorded in RA patients, and 25(OH)D serum levels were evaluated by chemiluminescent microparticle immunoassay for all subjects. Four VDR gene polymorphisms, BsmI, FokI, ApaI, and TaqI, were assessed using real-time PCR instruments and genotyping assays in both groups. Results: The study registered a high prevalence of 25(OH)D deficiency (<50 nmol/L) in RA patients (61.55% (n = 127)). The mean serum concentration in RA patients (44.96 ± 21.92 (nmol/L)) was significantly lower than in the healthy controls (54.90 ± 22.82 (nmol/L)), p < 0.0001. A significant inverse correlation between vitamin D level, DAS28 CRP, and HAQ scores was confirmed in RA patients, with p < 0.05. Still, there was no significant association between the overall risk of RA disease for any allele or genotype of the four VDR loci tested. Conclusions: The study confirmed that vitamin D deficiency is prevalent among RA patients and the 25(OH)D level is significantly lower compared with healthy controls. Lower vitamin D concentration was related with increased disease activity and disability scores. However, genetic analysis of four VDR polymorphisms did not confer the susceptibility to RA in Lithuanian population.

Project description:Tuberculosis (TB) is an important public health problem. Studies indicated that TAP plays a key role in the presentation and transport of antigenic peptides during anti-M.tb infection. Given the important biological role of the TAP gene involved in anti-M.tb infection, a family-based case-control study including 133 tuberculosis patients, 107 healthy household contacts, and 173 healthy controls was conducted to assess the association between TAP gene polymorphisms and TB susceptibility. The basic information of subjects and their blood samples were collected. Four SNPs including rs1135216, rs1057141, rs241447, and rs3819721 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Our results suggested that BMI, residence, bedroom crowding, indoor humidity, fitness activities, history of smoking, and TB exposure history were associated with the occurrence of tuberculosis (P < 0.05). A significant association was observed between the TAP1 rs1135216 CT/CC genotype and increased TB risk, and the ORs were 2.56 (95% CI 1.31-4.99) and 6.73 (95% CI 1.33-34.02), respectively. TAP2 rs3819721 GG genotype carriers also showed an increased risk of TB when compared TB patients to healthy household contacts. Haplotype analysis revealed that the haplotype CT at rs1057141 and rs1135216 (OR = 11.34, 95% CI 1.49-86.56; OR = 7.45, 95% CI 1.43-38.76), as well as TA at rs241447 and rs3819721 (OR = 2.20, 95% CI 1.07-4.56) had a significantly increased risk of TB. The genetic risk scores (GRS) analysis of the four loci indicated that the risk of tuberculosis increased with increasing GRS scores in TB vs HHC (Ptrend = 0.010) and in TB vs HC (Ptrend = 0.001). In conclusion, our findings suggested that the SNPs of rs1135216 and rs3819721 were associated with TB susceptibility among the tuberculosis-prone families in the Chinese Han population and the risk of developing tuberculosis increases with the number of risk alleles, which could help identify high-risk groups in time and take scientific preventive measures. Further cohort studies with large samples are needed to validate the role of TAP gene variants on TB susceptibility.

Dataset Information

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

Background

Methods

Results

Conclusion

Publications

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

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