Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer

Carvalho, Isabel S.; Gonçalves, Catarina I.; Almeida, Joana T; Azevedo, Teresa; Martins, Teresa; Rodrigues, Fernando; Lemos, Manuel C.

doi:10.3390/genes10080572

Cited by 15 publications

(20 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Venous blood samples were collected from each subject, and genomic deoxyribonucleic acid (DNA) was extracted from peripheral blood leucocytes using previously described methods [ 12 ]. Genotyping of the rs12785878, rs2060793 and rs6013897 SNPs was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using previously described methods and custom-designed primers [ 13 ]. For each of these SNPs, 100 ng of genomic DNA was used in 15 μL reactions containing 0.25 μM of each primer, 1 U of Taq DNA polymerase and respective buffer (DreamTaq Green DNA polymerase, Thermo Fisher Scientific, Waltham, MA, USA) and 200 μM of each deoxynucleotide (dNTP).…”

Section: Methodsmentioning

confidence: 99%

“…Amplified fragments were then digested with the appropriate restriction enzyme (New England Biolabs, Beverly, MA, USA or Thermo Fisher Scientific, Waltham, MA, USA), according to the manufacturer’s instructions, and visualized after electrophoresis on a 2% or 3% agarose gel. The identification of the rs12785878, rs2060793 and rs6013897 SNPs was based on the different fragments produced after digestion with the TaqI, SchI and TscAI restriction enzymes, respectively [ 13 ]. Genotyping of the GC rs2282679 SNP was performed by a TaqMan SNP genotyping assay with a commercially available TaqMan probe (Assay ID: C-26407519-10; Thermo Fisher Scientific, Waltham, MA, USA), according to the manufacturer’s instructions.…”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study

Almeida

Rodrigues

Guimarães

et al. 2020

Genes

Self Cite

View full text Add to dashboard Cite

Vitamin D has immunomodulatory effects, and its deficiency has been implicated in the autoimmune process of type 1 diabetes. Serum vitamin D levels are influenced by variants in genes involved in the synthesis, transport, hydroxylation and degradation of vitamin D. The aim of this study was to assess if single nucleotide polymorphisms (SNPs) at the DHCR7 (rs12785878), GC (rs2282679), CYP2R1 (rs2060793) and CYP24A1 (rs6013897) loci are associated with type 1 diabetes in the Portuguese population. Genotype and allele frequencies were determined in 350 cases of type 1 diabetes and in 490 controls. The frequency of each SNP alone was not significantly different between patients and controls. However, the combined analysis of the four SNPs showed that minor alleles of these variants clustered more frequently in patients. The proportion of individuals with three or more minor alleles was significantly higher in patients than in controls (56.3% vs. 48.5; odds ratio (OR) 1.37; 95% confidence interval (CI) 1.04–1.81; p-value 0.027). These results suggest a cumulative effect of SNPs at the DHCR7, GC, CYP2R1 and CYP24A1 loci on the susceptibility to type 1 diabetes, due to the roles of these genes in the vitamin D metabolic pathway.

show abstract

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study

Almeida

Rodrigues

Guimarães

et al. 2020

Genes

Self Cite

View full text Add to dashboard Cite

show abstract

“…Additionally, compelling evidence reveals the roles of vitamin D on extraskeletal diseases, such as infectious disease [2], cardiovascular disease [3], autoimmune disease [4], neurodegeneration [5], and cancer [6]. Deficiency of vitamin D has been reported to be relevant to oral squamous cell carcinoma [7], breast cancer [8], colorectal cancer [9], prostate cancer [10], pancreas cancer [11], thyroid cancer [12], hepatocellular carcinoma [13], and ovarian cancer [14]. Furthermore, vitamin D supplementation may decrease the death of cancer by 16% [15].…”

Section: Introductionmentioning

confidence: 99%

“…There has an individual variability in serum vitamin D stores which cannot be explained alone by age, sunlight exposure, body mass index, or dietary intake [12]. Studies have demonstrated that vitamin D level is highly heritable [16].…”

Section: Introductionmentioning

confidence: 99%

Association of Polymorphisms in Vitamin D-Metabolizing Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review and Meta-Analysis

Wen

Liang

et al. 2021

Disease Markers

View full text Add to dashboard Cite

The deficiency of vitamin D has been reported to be relevant to cancer risk. DHCR7 and CYP2R1 are crucial components of vitamin D-metabolizing enzymes. Thus, accumulating researchers are concerned with the correlation between polymorphisms of DHCR7 and CYP2R1 genes and cancer susceptibility. Nevertheless, the conclusions of literatures are inconsistent. We conducted an integrated review for the correlation of DHCR7 and CYP2R1 SNPs with cancer susceptibility. In the meanwhile, a meta-analysis was performed using accessible data to clarify the association between DHCR7 and CYP2R1 SNPs and overall cancer risk. Literatures which meet the rigid inclusion and exclusion criteria were involved. The association of each SNP with cancer risk was calculated by odds ratios (ORs). 12 case-control designed studies covering 23780 cases and 27307 controls were ultimately evolved in the present meta-analysis of five SNPs (DHCR7 rs12785878 and rs1790349 SNP; CYP2R1 rs10741657, rs12794714, and rs2060793 SNP). We found that DHCR7 rs12785878 SNP was significantly related to cancer risk in the whole population, Caucasian subgroup, and hospital-based (HB) subgroup. DHCR7 rs1790349 SNP was analyzed to increase cancer risk in Caucasians. Moreover, CYP2R1 rs12794714-A allele had correlation with a lower risk of colorectal cancer. Our findings indicated that rs12785878, rs1790349, and rs12794714 SNPs might potentially be biomarkers for cancer susceptibility.

show abstract

“…Binding of 1,25-(OH) 2 D 3 to its receptor results in pleiotropic effects regulating calcium-phosphate metabolism, cell proliferation, differentiation, apoptosis, angiogenesis and metastasis. Vitamin D can thus be described as a very important agent in the anti-cancer response [3]. Accordingly, many studies have shown the anticancer effects of vitamin D on breast, prostate, colon and endocrine cancers [20].…”

Section: Abstract Medullary Thyroid Carcinoma Vitamin D Vitamin D Receptor Polymorphism Introductionmentioning

confidence: 99%

Medullary thyroid cancer is associated with high serum vitamin D level and polymorphism of vitamin D receptors

et al. 2020

View full text Add to dashboard Cite

BackgroundThyroid cancer is the most common endocrine malignancy. Studies have observed an anti-cancer effect for vitamin D and found that polymorphisms of vitamin D receptors can influence the prevalence of various cancers. The present study investigated the serum level of vitamin D and FokI, BsmI and Tru9I polymorphisms of vitamin D receptors.MethodsForty patients with medullary thyroid cancer and 40 healthy controls were investigated. The genomic DNA of the subjects was extracted using saturated salt/proteinase K and investigated by PCR sequencing. Serum levels of vitamin D were evaluated by ELISA. The results were analyzed in SPSS and GraphPad Prism 5 software.ResultsThe genotypic and allelic frequencies of FokI and BsmI polymorphisms showed no significant differences between test and control groups. For Tru9I polymorphism, Tt genotype and t allelic frequency in the test group were significantly different from those of the control group. Also, we found Tt genotype and t allelic frequency to be significantly associated with medullary thyroid cancer (MTC) type and the agressiveness of the disease. The average serum vitamin D level was 23.32 ng/mL and 18.95 ng/mL for patients and controls, respectively, and the difference between the two groups was statistically significant. Moreover, we found high serum vitamin D level to be associated with t allelic frequency.ConclusionsUnexpectedly, the mean serum vitamin D level of the test group was significantly higher than that of the control group. Tru9I polymorphism was found to be significantly correlated with the prevalence of medullary thyroid carcinoma.

show abstract

Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer

Cited by 15 publications

References 31 publications

Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study

Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study

Association of Polymorphisms in Vitamin D-Metabolizing Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review and Meta-Analysis

Medullary thyroid cancer is associated with high serum vitamin D level and polymorphism of vitamin D receptors

Contact Info

Product

Resources

About