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

ABSTRACT: 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.

SUBMITTER: Wen J

PROVIDER: S-EPMC8164542 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes.

Project description:Our study is aimed to 1) clarify the vitamin D status in Uygur and Kazak ethnic populations and 2) elucidate the relationship between 14 SNPs (in 5 vitamin D-related genes) and vitamin D deficiency in these 2 ethnic populations.A multistage-cluster sampling survey was carried out for residents with Uygur or Kazak ethnicity in Xinjiang, China. Anthropometric measurements were taken and the concentrations of 25OHD were measured. Fourteen common variants in VDR, GC, CYP2R1, CYP27B1, and DHCR7/NADSYN1 were genotyped by using multiple SNaPshot assay. Logistic regression analysis was performed to identify the possible risk factors for vitamin D deficiency, after adjusting for several environmental and biological factors. The pattern of SNP associations was distinct between Uygurs and Kazaks.Anthropometric measurements and the concentrations of 25OHD were obtained from 1873 participants (945 Uygur ethnic and 928 Kazak ethnic). The genotypes of 14 SNPs were measured for 300 Uygurs and 300 Kazaks. The median 25OHD concentration was as low as 10.4 ng/ml in Uygurs and 16.2 ng/ml in Kazaks. In Uygurs, the prevalence of vitamin D deficiency, in-sufficiency, and sufficiency was 91.2%, 5.8%, and 3.0%, respectively. CYP2R1-rs10766197 was significantly associated with the presence of vitamin D deficiency in the Uygur ethnic population (P=0.019, OR=6.533, 95%C.I.: 361-31.357), while DHCR7/NADSYN1-rs12785878 was significantly associated with the presence of vitamin D deficiency in the Kazak ethnic population (P=0.011, OR=2.442, 95%C.I.: 1.224-4.873). Of 10 SNPs in VDR and GC genes, none was associated with vitamin D status in these 2 ethnic populations.Vitamin D insufficiency is highly prevalent in Uygurs and Kazaks living in Xinjiang, China. Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations.

| S-EPMC4501656 | biostudies-literature

Vitamin D receptor gene polymorphisms in association with diabetic nephropathy: a systematic review and meta-analysis.

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Association of Vitamin D receptor gene TaqI polymorphisms with tuberculosis susceptibility: a meta-analysis.

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Association between vitamin D receptor gene polymorphisms and genetic susceptibility to benign prostatic hyperplasia: A systematic review and meta-analysis.

Project description:BackgroundBenign prostatic hyperplasia (BPH) is one of the global public health challenges due to the complexity of its mechanisms of occurrence. Many studies have suggested that vitamin D receptor gene polymorphisms are associated with BPH susceptibility. Still, their conflicting findings need to be analyzed in aggregate to gain a better understanding.MethodsWe identified 10 trials involving 1539 BPH cases and 1915 controls through a systematic search of Embase using, data obtained from the Web of Science, PubMed, and China Knowledge Network databases as of December 31, 2021. A meta-analysis was performed to investigate the association between 4 constant polymorphisms of this associated vitamin D receptor gene (Fok-1, Bsm-1, Taq-1, and Apa-1) and BPH risk.ResultsIn the overall population analysis, a significant positive association with BPH risk was found only in the Taq-1 variant (P < .001). Of these, the pure-hybrid model (95% confidence interval [CI] = 1.384-3.196), the heterozygous model (95% CI = 1.207-2.021), the dominant model (95% CI = 1.312-2.133) and the allelic inheritance model (95% CI = 1.205-1.730) showed low heterogeneity. In subtype analyses, Bsm-1 variants showed a significant association with BPH risk for both the recessive (95% CI = 0.100-0.943, P = .039) and over-dominant (95% CI = 1.553-3.100, P = 0) models in the Caucasian population, and for the recessive (95% CI = 1.242-3.283, P = .039) and over-dominant (95% CI = 0.281-0.680, P = 0) models in the Asian population. In addition, a high degree of heterogeneity was found in the subgroup analysis of the association between Fok-1 variants and BPH risk.ConclusionOverall, there is an association between vitamin D receptor polymorphisms and BPH risk. Identification of BPH susceptibility by vitamin D receptor gene polymorphisms has potential.

| S-EPMC10906597 | biostudies-literature

Genetic polymorphisms in metabolizing enzymes modifying the association between smoking and inflammatory bowel diseases.

Project description:Cigarette smoking is a well-established environmental risk factor for Crohn's disease (CD) and ulcerative colitis (UC). The exact mechanism of its effect remains unexplained. Genetic polymorphisms in metabolizing enzymes may influence susceptibility to the effect of smoking and shed light on its mechanism of action.We used a prospective cohort of patients with CD, UC, and healthy controls. Smoking status was defined as current, former, or never smoking. Patients were genotyped for polymorphisms in CYP2A6, glutathione transferase enzymes (GSTP1 and GSTM1), NAD(P)H quinone oxidoreductase (NQO), and heme oxygenase 1 using a Sequenom platform. Multivariate logistic regression models with CD or UC as the outcome, stratified by genotype, were developed and interaction P-values calculated.Our study included 634 patients with CD, 401 with UC, and 337 healthy controls. Ever smokers had an increased risk of CD (odds ratio = 3.88, 95% confidence interval = 2.35-6.39) compared with nonsmokers among patients with AG/AA genotypes at CYP2A6. However, ever smoking was not associated with CD among patients with the AA genotype (Pinteraction = 0.001). Former smoking was associated with an increased risk for UC only in the presence of GG/AG genotypes for GSTP1 but not in those with the AA genotype (Pinteraction = 0.012). Polymorphisms at the NQO and HMOX loci did not demonstrate a statistically significant interaction with smoking and risk of CD or UC.Genetic polymorphisms in metabolizing enzymes may influence the association between smoking and CD and UC. Further studies of gene-environment interaction in inflammatory bowel disease are warranted.

| S-EPMC4113010 | biostudies-literature

Vitamin D deficiency associates with susceptibility to tuberculosis in Pakistan, but polymorphisms in VDR, DBP and CYP2R1 do not.

Project description:BackgroundSingle nucleotide polymorphisms (SNPs) in the genes encoding the vitamin D receptor (VDR) and the vitamin D binding protein (DBP) have been reported to modify the influence of vitamin D deficiency on susceptibility to active tuberculosis (TB) in the UK, but this phenomenon has not been investigated in settings with a high TB burden. SNPs in CYP2R1, which encodes a vitamin D 25-hydroxylase enzyme, are known to influence vitamin D status, but their potential role in determining susceptibility to TB has not previously been investigated in any setting.MethodWe conducted a case-control study in 260 pulmonary TB patients and 112 controls recruited in Lahore, Pakistan. Analyses were conducted to test for main effects of vitamin D status and SNPs in VDR (rs731236, rs2228570 and rs1544410), DBP (rs7041 and rs4588) and CYP2R1 (rs2060793, rs10500804 and rs10766197) on susceptibility to TB, and to investigate whether these SNPs modify the association between vitamin D status and disease susceptibility.ResultsProfound vitamin D deficiency (serum 25-hydroxyvitamin D concentration ≤ 20 nmol/L) was common among TB patients (118/260, 45 %), and was independently associated with susceptibility to TB (adjusted odds ratio 1.87, 95 % CI 1.15 to 3.04, P = 0.01). However, none of the SNPs investigated associated with susceptibility to TB, either in main effects analysis, or in interaction with vitamin D status.ConclusionProfound vitamin D deficiency was common among TB patients in this high-burden setting, and was independently associated with disease susceptibility. However, no statistically significant associations between SNPs in the vitamin D pathway and disease susceptibility was demonstrated.

| S-EPMC4862192 | biostudies-literature

Alcohol Intake, Alcohol Metabolizing Enzymes Gene Polymorphisms and the Risk of Colorectal Cancer

Project description:According to the statistic reports from World Health Organization (WHO) International Agency for Research on Cancer (IARC), the incidence and mortality rate of colorectal cancer ranked third and fourth respectively among ten most commonly diagnosed cancer worldwide; moreover, based on the statistics from Health Promotion Administration, Ministry of Health and Welfare in Taiwan, the incidence and mortality rate of colorectal cancer ranked second and third respectively among call cancer in Taiwanese population. However, if colorectal cancer is diagnosed and treated in early phase, the 5-year survival rate for stage I colorectal cancer can be up to 90%; on the other hand, the 5-year survival rate for end stage colorectal cancer is only approximately 10%. Therefore, the screening, early diagnosis od colorectal cancer is crucial. To date, there are some known risk factors for colorectal cancer, including familial adenomatous polyposis, obesity, physical inactivity, etc. Alcohol had also been identified as an important risk factor for colorectal cancer, and the risk could be higher among Asian population because of the reduced enzymatic activity of some of the alcohol metabolizing enzymes. Thus, through this study, the investigators hope to find out the risk factors of colorectal cancer among Taiwanese population, including alcohol metabolizing enzyme gene polymorphisms and their interaction with environmental factors, to attain the purpose of early prevention of colorectal cancer.

| 2244562 | ecrin-mdr-crc

Functional polymorphisms of xenobiotics metabolizing enzymes-a research topic.

Project description: Not available

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Functional genetic polymorphisms from phase-II drug metabolizing enzymes.

Project description: Not available

| S-EPMC6493454 | biostudies-literature

Association of vitamin D receptor polymorphisms and type 1 diabetes susceptibility in children: a meta-analysis.

Project description:BackgroundThere have been studies focused on FokI, BsmI, ApaI and TaqI polymorphisms of the vitamin D receptor (VDR) gene and susceptibility to type 1 diabetes mellitus with controversial results.MethodsThis present study is a meta-analysis investigating the association between FokI, ApaI, TaqI and BsmI polymorphisms of VDR gene and type 1 DM in children. A literature search was performed using Medline, EMBASE, Cochrane and PubMed. Any study was considered eligible for inclusion if at least one of FokI, ApaI, TaqI and BsmI polymorphisms was determined, and outcome was type 1 DM at pediatric age.ResultsA total of 9 studies comprising 1053 patients and 1017 controls met the study inclusion criteria. The pooled odds ratios (ORs) of the FokI, ApaI, TaqI and BsmI polymorphisms were combined and calculated. Forest plots and funnel plots of the OR value distributions were drawn. Our meta-analysis has demonstrated statistically significant associations between DM1 and VDR genotypes, BsmIBB (P < 0.05), BsmIBb, (P < 0.05), BsmIbb (P < 0.05), TaqITT (P < 0.05) and TaqItt (P < 0.05) in children.ConclusionThe results indicated that BsmIBB, BsmIBb and TaqItt polymorphisms were associated with an increased risk of type 1 DM, whereas BsmIbb and TaqITT had protective effect for type 1 DM in children.

| S-EPMC5424779 | biostudies-literature

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