Vitamin D receptor gene polymorphisms and hepatocellular carcinoma in alcoholic cirrhosis

AIM: To assess the relationship between vitamin D re-ceptor (VDR) gene polymorphisms and the presence of hepatocellular carcinoma (HCC). METHODS: Two-hundred forty patients who underwent liver transplantation were studied. The etiologies of liver disease were hepatitis C (100 patients), hepatitis B (37) and alcoholic liver disease (103). A group of 236 healthy subjects served as controls. HCC in the explanted liver was detected in 80 patients. The following single nucle-otide gene polymorphisms of the VDR were investigatedby polymerase chain reaction and restriction fragment length polymorphism: FokI C>T (F/f), BsmI A>G (B/b), ApaI T>G (A/a) and TaqI T>C (T/t) (BAT). RESULTS: The frequencies of genotypes in patients without and with HCC were for FokI F/F = 69, F/f = 73, f/f = 18 and F/F = 36, F/f = 36, f/f = 8; BsmI b/b = 45, B/b = 87, B/B = 28 and b/b = 33, B/b = 35, B/B = 12; for ApaI A/A = 53, A/a = 85, a/a = 22 and A/A = 27, A/a = 38, a/a = 15; for TaqI T/T = 44, T/t = 88, t/t = 28 and T/T = 32, T/t = 38, t/t = 10. Carriage of the b/b genotype of BsmI and the T/T genotype of TaqI was signif icantly associated with HCC (45/160 vs 33/80, P < 0.05 and 44/160 vs 32/80, P < 0.05, respectively). The absence of the A-T-C protective allele of BAT was signif i-cantly associated with the presence of HCC (46/80 vs 68/160, P < 0.05). A strong association was observed between carriage of the BAT A-T-C and G-T-T haplotypes and HCC only in alcoholic liver disease (7/46 vs 12/36 vs 11/21, P < 0.002, respectively).CONCLUSION: VDR genetic polymorphisms are sig-nificantly associated with the occurrence of HCC in patients with liver cirrhosis. This relationship is more specific for patients with an alcoholic etiology.

Immunohistochemical evaluation of vitamin D receptor(VDR) expression in cutaneous melanoma tissues and four VDR gene polymorphisms

Objective:Vitamin D receptor(VDR)mediates vitamin D activity.We examined whether VDR expression in excised melanoma tissues is associated with VDR gene(VDR)polymorphisms.Methods:We evaluated VDR protein expression(by monoclonal antibody immunostaining),melanoma characteristics,and carriage of VDR-Fok I-rs2228570(C>T),VDR-Bsm I-rs1544410(G>A),VDR-ApaI-rs7975232(T>G),and VDR-TaqI-rs731236(T>C)polymorphisms(by restriction fragment length polymorphism).Absence or presence of restriction site was denoted by a capital or lower letter,respectively:"F"and"f"for Fok I,"B"and"b"for Bsm I,"A"and"a"for ApaI,and "T"and"t"for TaqI endonuclease.Seventy-four Italian cutaneous primary melanomas(52.1±12.7 years old)were studied;51.4% were stage Ⅰ,21.6% stage Ⅱ ,13.5% stage Ⅲ,and 13.5% stage Ⅳ melanomas.VDR expression was categorized as follows:100% positive vs.<100%;over the median 20%(high VDR expression)vs.≤20%(low VDR expression);absence vs.presence of VDR-expressing cells.Results:Stage I melanomas,Breslow thickness of<1.00 mm,level II Clark invasion,Aa heterozygous genotype,and AaTT combined genotype were more frequent in melanomas with high vs.low VDR expression.Combined genotypes BbAA,bbAa,AATt,BbAATt,and bbAaTT were more frequent in 100%vs.<100%VDR-expressing cells.Combined genotype AATT was more frequent in melanomas lacking VDR expression(odds ratio=14.5;P=0.025).VDR expression was not associated with metastasis,ulceration,mitosis>1,regression,tumor-infiltrating lymphocytes,tumoral infiltration of vascular tissues,additional skin and non-skin cancers,and melanoma familiarity.Conclusions:We highlighted that VDR polymorphisms can affect VDR expression in excised melanoma cells.Low VDR expression in AATT carriers is a new finding that merits further study.VDR expression possibly poses implications for vitamin D supplementation against melanoma.VDR expression and VDR genotype may become precise medicinal tools for melanoma in the future.

Vitamin D receptor gene polymorphisms and colorectal cancer risk:A systematic meta-analysis

AIM:To investigate the relationship between polymorphisms present in the vitamin D receptor(VDR) gene and colorectal cancer risk,a systematic meta-analysis of population-based studies was performed.METHODS:A total of 38 relevant reports published between January 1990 and August 2010 were identified,of which only 23 qualified for this meta-analysis based on our selection criteria.Five polymorphic variants of the VDR gene,including Cdx-2(intron 1e) and FokI(exon 2) present in the 5' region of the gene,and BsmI(intron 8),ApaI(intron 8),and TaqI(exon 9) sites present in the 3' untranslated region(UTR),were evaluated for possible associations with colorectalcancer risk.Review manager 4.2 was used to perform statistical analyses.RESULTS:In the meta-analysis performed,only the BsmI polymorphism was found to be associated with colorectal cancer risk.In particular,the BsmI B genotype was found to be related to an overall decrease in the risk for colorectal cancer [BB vs bb:odds ratio(OR) = 0.87,95% CI:0.80-0.94,P = 3 × 10-4;BB vs Bb + bb:OR = 0.90,95% CI:0.84-0.97,P = 5 × 10-4].Moreover,in subgroup analyses,the BsmI B genotype was significantly associated with colon cancer,and not rectal cancer.An absence of between-study heterogeneity was also observed.CONCLUSION:A meta-analysis of 23 published studies identified the BsmI polymorphism of the VDR gene to be associated with an increased risk of colon cancer.

EFFECTS OF VITAMIN D RECEPTOR GENE POLYMORPHISMS ON SUSCEPTIBILITY TO TYPE 1 DIABETES MELLITUS

Objective To investigate the influence of vitamin D receptor （VDR） gene polymorphisms on susceptibility to type 1 diabetes mellitus （T1DM） in the Chinese Han population. Method One hundred and thirty-six Chinese Han people, including 54 T1DM patients and 82 unrelated healthy subjects as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism for three restriction sites in the VDR gene, which were ApaI, TaqI, and BamL Results The frequency of B allele of BsmI site in VDR gene was significantly higher in T1DM patients than in healthy subjects （ P = 0. 033 ） while no difference was found between the two groups in the distribution of ApaI and TaqI polymorphisms. Conclusion The BsmI polymorphism of VDR gene may be associated with the susceptibihty to T1DM in the Chinese Han population of Beijing.

Association of single nucleotide polymorphism of vitamin D receptor gene start codon and the suscepbility to prostate cancer in Han nationality in Hubei, China

Aim: To investigate the single nucleotide polymorphism of vitamin D receptor (VDR) gene start codon in the Han nationality in Hubei and its relationship to the susceptibility to prostate cancel (PCa). Methods: The VDR genotypes were determined by poly-merase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 80 patients with PCa and 96 normal male controls from the Han nationality in Hubei, using endonuclease Fok. Direct sequencing was done in part of the PCR products. Results: The frequency distribution of Fok I alleles in this cohort all followed the Hardy-Weinberg equilibrium. The distribution of genotypes and alleles had no significant difference between PCa patients and the controls (P>0.05). Conclusion: There was no significant relationship between Fok I polymorphism of VDR gene start codon and PCa in the Han nationality in Hubei.

Association between gene polymorphisms of vitamin D receptor and pulmonary tuberculosis susceptibility:a meta-analysis

The vitamin D receptor （VDR） gene is a primary candidate gene for tuberculosis susceptibility, but results of previous studies are somewhat contradictory and underpowered. Thus, it is essential to further explore the association between VDR gene polymorphisms and risk of pulmonary tuberculosis （PTB）. Methods： A systematic review and meta-analysis about the association between Fok[, TaqI, Apal and Bsm[ polymorphisms and PTB susceptibility was conducted. Statistical Package for Social Science （Version 13.0） and Review Manager （Version 4.2, The Cochrane Collaboration） were used to analyze the data reported in studies. Results： A total of 13 studies with 2 262 cases and 2 833 controls were involved in the FokI polymorphism, and the results showed FokI polymorphism was associated with PTB susceptibility （allele f vs F： OR=1.12, 95% CI=[1.02, 1.23]; the additive effect model ff vs FF： OR=1.40, 95%CI=[1.10, 1.77]; the recessive genetic model firs Ff＋FF： OR=1.39, 95%CI=[1.12, 1.71]）. No significant associations were observed between TaqI （15 studies with 3 031 cases and 3 132 controls）, ApaI （7 studies with 1 495 cases and 1 922 controls）, BsmI （6 studies with 919 cases and 1 250 controls） variants and PTB susceptibility. Conclusion： We found variant Fokl polymorphism of VDR gene may play a risky role in PTB development, and the genetic model was presumed to be recessive.

Association of Vitamin D Receptor Gene Polymorphisms with Metabolic Syndrome in Rural Areas of China

Metabolic Syndrome (MS) is a combination of multiple complex diseases, whose etiology is complicated and has many influencing factors Randomized controlled trials have shown that vitamin D supplementation could delay the ameliorate symptoms of multiple chronic disease Therefore, it is reasonable to postulate that the expression levels of vitamin D and its related gene variants might be correlated with MS.

Polymorphisms of the Vitamin D Receptor Gene and SexDifferential Associations with Lipid Profiles in Chinese Han Adults

Objective To explore the association of single nucleotide polymorphisms(SNPs)of the vitamin D receptor gene(VDR)with circulating lipids considering gender differences.Methods Of the Han Chinese adults recruited from a health examination center for inclusion in the study,the circulating lipids,25-hydroxyvitamin D(25OHD),and other parameters were measured.The VDR SNPs of Cdx2(rs11568820),Fok1(rs2228570),Apa1(rs7975232),and Taq1(rs731236)were genotyped with a qPCR test using blood DNA samples,and their associations with lipids were analyzed using logistic regression.Results In the female participants(n=236 with dyslipidemia and 888 without dyslipidemia),multiple genotype models of Fok1 indicated a positive correlation of B(not A)alleles with LDLC level(P<0.05).In the male participants(n=299 with dyslipidemia and 564 without dyslipidemia),the recessive model of Cdx2 and the additive and recessive models of Fok1 differed(P<0.05)between the HDLC-classified subgroups,respectively,and Fok1 BB and Cdx2 TT presented interactions with 25OHD in the negative associations with HDLC(P<0.05).Conclusion In the Chinese Han adults included in the study,the Fok1 B-allele of VDR was associated with higher LDLC in females,and the Fok1 B-allele and the Cdx2 T-allele of VDR were associated with lower HDLC in males.The interaction of VD and Fok1 BB or Cdx2 TT in males synergistically decreased HDLC levels.

Vitamin D receptor gene Tru9I polymorphism and risk for incidental sporadic colorectal adenomas

AIM： Recent laboratory and epidemiological studies suggest that vitamin D is a potential agent for colorectal cancer prevention. Its function is partially mediated by the vitamin D receptor （VDR）. The aim of this study was to investigate whether a novel G （allele ‘U’g〉A （allele ‘u’ polymorphism （Tru9I） in the VDR intron 8 region is associated with risk for colorectal adenoma in a colonoscopy-based case-control study. METHODS： Genotyping for a total of 391 subjects was carried out through PCR and restriction fragment length polymorphism. RESULTS： The frequencies of ‘U’ and ‘u’ alleles were 89.3% and 10.7%, respectively. The ‘Uu’ and ‘uu’ genotypes were associated with decreased risk for adenoma （OR, 0.71; 95%CI, 0.40-1.25）. The inverse association was more pronounced for multiple adenomas and adenomas that were larger had moderate or greater dysplasia, or were sessile： the odds ratios （ORs） were, 0.51 （95%CI, 0.21-1.24）, 0.37 （95%CI, 0.11-1.28）, 0.68 （95%CI, 0.33- 1.41）, and 0.36 （95%CI, 0.13-0.97） respectively. In joint/ combined analyses, inverse associations were more obvious among those who had at least one ‘u’ allele and also were younger （OR, 0.60; 95%CI, 0.26-1.37）, women （OR, 0.38; 95%CI, 0.17-0.88）, did not smoke （OR, 0.39; 95%CI, 0.13-1.23）, or took NSAID （OR, 0.38; 95%CI, 0.12-1.25）, but no evidence existed for interactions with calcium or vitamin D intake.CONCLUSION： Our findings suggest that the VDR TrugI polymorphism may be associated with lower risk for colorectal adenoma, particularly in interaction with various risk factors, but not with calcium or vitamin D.

Association of Vitamin D Receptor Gene Polymorphisms with Calcium Oxalate Calculus Disease

To study the relationship between polymorphism of vitamin D receptor (VDR) allele with formation of calcium oxalate calculus and find the predisposing genes of calcium oxalate calculus, we screened out 150 patients who suffered from calcium oxalate calculus. 36 of them had idiopathic hypercalciuria according to analysis of calculus component and assay of urine calcium. The polymorphisms of VDR gene Taq1, Apa1 and Fok1 were detected using PCR-RFLP technique and the correlation were analyzed between the polymorphism and urinary calculus or between the polymorphism and hypercalciuria. The difference in each genotypic frequency of the allele of promoter Fok1 between calculus group and healthy group or between idiopathic hypercalciuria calculus group and health group was significant. The content of 24-h urine calcium of those who had genotype ff was obviously higher than that of those who have other genotypes in the same group. There was no significant difference in the polymorphism of gene Apa1 and Taq1 between each two groups. It is concluded that hypercalciuria and calcium oxalate calculus were related to the polymorphism of VDR gene's promoter Fok1 allele, but it had nothing to do with the polymorphism of gene Apa1 and Taq1. The genotype ff was a candidate heredity marker of calcium calculus disease.

The Prognostic Value of Vitamin D Insufficiency &Vitamin D Receptor Gene Polymorphism in Adult Acute Myeloid Leukemia Patients

Background: Vitamin D regulates many aspects of cellular growth and differentiation in normal and cancer cells. There is growing evidence for both serum vitamin D level and VDR gene polymorphism as prognostic factors in hematologic malignancies. Aim of this work: Evaluation of vitamin D serum level and VDR FOKI polymorphism as prognostic factors in adult AML patients. Patients & Methods: Eighty subjects were included in this study, 50 adult patients with newly diagnosed AML and 30 apparently healthy controls matched for age and sex. Venous blood samples were withdrawn from all subjects for measurement of serum 25(OH) vitamin D using competitive photo chemiluminescence and molecular detection of VDR (FOKI) polymorphism, which was done by RFLP PCR. All patients received the standard induction chemotherapy regimen 3 & 7. Results: The rate of vitamin D insufficiency was significantly higher in AML patients compared to controls (58% vs 16%, p = 0.03). The mutant FOKI genotype (FF & Ff) was found in 52 % of patients compared to 23 % of controls (p = 0.02). Patient with sufficient vitamin D level showed a significantly higher complete response rate compared to those with insufficient level (90% vs 44%, p = 0.02), while none of the other clinical features showed significant relation. Patients with wild type FOKI polymorphism (FF) were more likely to have favorable cytogenetics, while patient with mutant FOKI polymorphism were more likely to have poor cytogenetics (p = 0.03). The CR rate was highest in the wild type FF group (87.5%) followed by the heterozygous Ff group (50%), while none of the patients in the homozygous ff group achieved CR (p = 0.04). Conclusion: VDR FOKI polymorphism and serum vitamin D level showed a significant impact on the treatment outcome of adult AML patients suggesting their potential role as prognostic factors in these patients. Longer follow up will be needed to study the impact on overall and disease free survival.

Study of Vitamin D Receptor (VDR) Gene Polymorphisms among Egyptian Cohort Patients with Different Stages of Colorectal Cancer

Colorectal cancer represents the third cancer worldwide. Studies showed thatinsufficient levels of vitamin D may result in colorectal cancer. Genetic variations in genes controlling vitamin D activity would play a role in determining susceptibility to colorectal cancer. Aim of the work: to study the different genotypes of VDR polymorphisms and detect the association between serum levels of 25(OH)VitD and 1,25(OH)2VitD among sample of Egyptian patients with different stages of colorectal cancer. Methods: Ninety patients (60 with different stages of colorectal cancer and 30 patients with benign pathology of the colon) together with 30 healthy controls were examined using PCR-RFLP analysis for FokI, ApaI and TaqI polymorphisms. Results: Genotype distribution for ApaI polymorphism showed no statistically significant difference between patients (colorectal cancer and benign) and controls with p = 0.1. There was no statistically significant difference in FokI polymorphism where p = 0.26 and genotype distribution for TaqI was also insignificant with p = 0.016. The median serum level of 25(OH)VitD was low in cancer cases compared to the control group and benign cases with (p 0.001). There was no statisticallysignificant difference of median serum level of 1,25(OH)2VitD between benign and cancer cases. There was statistically significant difference of median serum level of 25(OH)VitD and 1,25(OH)2VitD between stage I and stage II with (p = 0.004) and (p 0.001), and between stage I and stage III with (p = 0.001)and (p 0.001), but no statistically significant difference between stage II and III with (p = 0.514). Conclusions: There is ethnic variability in vitamin D receptor gene polymorphisms. The lack of significant association of the studied gene polymorphism in our population suggests that its association with other functionally known gene polymorphism might have a role in the pathogenesis of colorectal cancer.

Association between vitamin D receptor gene polymorphism and prognosis in patients with end stage renal disease undergoing dialysis

Objective:To investigate the relationship between vitamin D receptor gene polymorphism and prognosis in patients with end stage renal disease(ESRD)undergoing dialysis.Methods:80 patients with ESRD who underwent regular hemodialysis in our hospital were admitted from January 2016 to June 2016,and 80 healthy volunteers from our hospital were collected as control group during the same period.The polymorphisms of rs1544410(BsmI)of vitamin D receptor gene were identified by peripheral blood DNA amplification and specific enzyme digestion,including wild type GG(bb)and mutant GA(Bb)and AA(BB).Then analyze and compare the distribution of BsmI in patients with ESRD and normal volunteers,further analyze the correlation between BsmI locus and clinical characteristics of patients with ESRD,and analyze the relationship between BsmI locus and prognosis of patients with ESRD according to the follow-up results of patients.Results:The incidence of wild type(bb)of vitamin D receptor BsmI locus in patients with ESRD was significantly lower than that in the control group,while the incidence of mutant type(Bb and BB)was higher than that in the control group,with an advantage ratio of 1.378(P=0.004).The allele frequency of BsmI locus showed that the incidence of A-base in patients with ESRD was higher than that in control group,with an advantage ratio of 1.368(P=0.010).Comparing the genotype and clinical characteristics of BsmI locus in patients with ESRD,it was found that there were no differences in age,sex ratio between men and women,BMI,hypertension,diabetes,LDL,HDL,TG,urea nitrogen,creatinine,calcium,phosphorus,albumin and vitamin D levels among different genotypes.One year after treatment,the survival rate of bb group was significantly higher than that of Bb group and BB group(P=0.006).K-M analysis showed that the median survival time of BB group was 20 months,that of BB group was 8 months,and that of BB group was 4 months(P=0.000).Conclusion:There is a high mutation rate of BsmI locus(GA,AA type)in patients with ESRD,that is,the mutation rate of G-base to A is higher,and the survival time of patients with mutation is significantly shortened.

Bsm I(rs1544410) and Fok I(rs2228570) vitamin D receptor polymorphisms, smoking, and body mass index as risk factors of cutaneous malignant melanoma in northeast Italy

Objective:To investigate whether vitamin D receptor gene(VDR)Bsm I-rs1544410 and Fok I-rs2228570 polymorphisms,smoking duration,and body mass index(BMI)are risk factors for cutaneous melanoma,especially metastatic melanoma.Methods:We studied 120 cutaneous melanoma cases[68 stage I and II non-metastatic melanoma(NMet M)patients,plus 52Stage III and IV metastatic melanoma(Met M)patients],and 120 matching healthy controls from northeast Italy.VDR polymorphisms were measured by restriction fragment length polymorphism analysis.Absence or presence of Bsm I and Fok I restriction sites was denoted by"B"and"F"or by"b"and"f,"respectively.Results:VDR-Bsm I bb genotype was more frequent among Met M(32.7%)than among NMet M cases(13.2%),with odds ratio(OR)=3.18.Comparison of all melanoma patients vs healthy controls showed that the following biomarkers were at risk:≥20 years of smoking(OR=2.43);≥20 years of smoking combined with bb(OR=4.78),Bb+bb(OR=2.30),Ff(OR=3.04),and Ff+ff(OR=3.08);obesity(BMI>30Conclusions:Risk factors for cutaneous Met M include two VDR polymorphisms combined with smoking duration and obesity.Results suggest gene-environment implications in melanoma susceptibility and severity.Future studies in larger cohorts and in subjects with different genetic background are warranted to extend our findings.

Plasma Vitamin D Levels And Vitamin D Receptor Polymorphisms Are Associated with Survival of Non-small Cell Lung Cancer

Objective：Vitamin D and its receptor（VDR） involve in multiple cellular processes and play an important role in the initiation and progression of malignancy.Thus we hypothesized that plasma vitamin D levels and single nucleotide polymorphisms（SNPs） in VDR may be of prognostic significance in non-small cell lung cancer（NSCLC）.Methods：We examined plasma 25-hydroxyvitamin D [25（OH）D] levels in 87 patients diagnosed with NSCLC using enzyme-linked immunosorbent assay（ELISA） and genotyped seven potentially functional SNPs in VDR in 568 NSCLC patients on Illumina Golden Gate platform.Results：Patients with higher plasma 25（OH）D levels had worse survival than patients with lower ones（P for trend = 0.048）.The SNPs of rs1544410 and rs739837 were independently associated with NSCLC survival（adjusted HR = 1.61,95% CIs = 1.06-2.45 for rs739837 AA vs AC/CC and adjusted HR = 1.51,95% CIs = 1.06-2.16 for rs1544410 AG/AA vs GG）.A joint effect was observed between rs1544410 and rs739837 and the risk of death elevated as the number of unfavourable genotypes patients carried increased（P for trend = 0.003）.There were no significant associations between VDR polymorphisms and plasma 25（OH）D levels.Conclusion：Our findings indicate that plasma 25（OH）D levels and genetic variants of VDR may serve as prognostic markers for NSCLC in this Chinese population.

Polymorphisms in CYP2R1 Gene Associated with Serum Vitamin D Levels and Status in a Chinese Rural Population

Vitamin D, a fat-soluble vitamin and endocrine horm one, and it impacts various bone and extra-bone health, such as osteoporosis, diabetes, and cancer. The main circulating form of vitamin D is 25-hydroxyvitamin D [25(OH)D] and it is a useful clinical biomarker of vitamin D status. The Institute of Medicine (IOM) defines as vitamin D deficiency (VDD) when serum 25(OH)D concentration is less than 20 ng/mL⑴.Worldwide, VDD is recognized as a severe public health problem. In 2007, Holick estimated that globally over one billion people suffered from VDD or vitamin D insufficiency (VDI). In China, it has bee n reported that the prevale nee of VDD ranged from 38.8% to 91.2% in different regions.

Association of vitamin D and polymorphisms of its receptor with antiviral therapy in pregnant women with hepatitis B

BACKGROUND The interruption of mother-to-child transmission(MTCT)is considered important to decrease the individual and population morbidity of hepatitis B virus(HBV)infection as well as the global burden of hepatitis B.Serum vitamin D(VD)is associated with hepatitis B.AIM To assess whether baseline VD levels and single nucleotide polymorphisms of the VD receptor gene(VDR SNPs)are associated with the efficacy of tenofovir disoproxil fumarate(TDF)in the prevention of MTCT in pregnant women with high HBV viral loads.METHODS Thirty-eight pregnant women who were at high risk for MTCT of HBV(those with an HBV DNA level≥2×10^(5)IU/mL during 12-24 wk of gestation)receiving antiviral therapy of TDF between June 1,2019 and June 30,2021 in Mianyang were included in this retrospective study.The women received 300 mg TDF once daily from gestational weeks 24-28 until 3 mo after delivery.To further characterize the clinical relevance of maternal serum HBV DNA levels,we stratified patients according to HBV DNA level as follows:Those with levels<2×10_(5)(full responder group)vs those levels≥2×10^(5)IU/mL(partial responder group)at delivery.Serum levels of 25-hydroxyvitamin D[25(OH)D],liver function markers,virological parameters,VDR SNPs and other clinical parameters were collected to analyze their association with the efficacy of TDF.The Mann-Whitney U test or t test was used to analyze the serum levels of 25(OH)D in different groups.Multiple linear regressions were utilized to analyze the determinants of the maternal HBV DNA level at delivery.Univariate and multivariate logistic regression analyses were employed to explore the association of targeted antiviral effects with various characteristics at baseline and delivery.RESULTS A total of 38 pregnant women in Mianyang City at high risk for MTCT of HBV were enrolled in the study.The MTCT rate was 0%.No mother achieved hepatitis B e antigen or hepatitis B surface antigen(HBsAg)clearance at delivery.Twenty-three(60.5%)participants were full responders,and 15(39.5%)participants were partial responders according to antiviral efficacy.The present study showed that a high percentage(76.3%)of pregnant women with high HBV viral loads had deficient(<20 ng/mL)or insufficient(≥20 but<31 ng/mL)VD levels.Serum 25(OH)D levels in partial responders appeared to be significantly lower than those in full responders both at baseline(25.44±9.42 vs 17.66±5.34 ng/mL,P=0.006)and delivery(26.76±8.59 vs 21.24±6.88 ng/mL,P=0.044).Serum 25(OH)D levels were negatively correlated with maternal HBV DNA levels[log(10)IU/mL]at delivery after TDF therapy(r=-0.345,P=0.034).In a multiple linear regression analysis,maternal HBV DNA levels were associated with baseline maternal serum 25(OH)D levels(P<0.0001,β=-0.446),BMI(P=0.03,β=-0.245),baseline maternal log10 HBsAg levels(P=0.05,β=0.285)and cholesterol levels at delivery(P=0.015,β=0.341).Multivariate logistic regression analysis showed that baseline serum 25(OH)D levels(OR=1.23,95%CI:1.04-1.44),maternal VDR Cdx2 TT(OR=0.09,95%CI:0.01-0.88)and cholesterol levels at delivery(OR=0.39,95%CI:0.17-0.87)were associated with targeted antiviral effects(maternal HBV DNA levels<2×10^(5) at delivery).CONCLUSION Maternal VD levels and VDR SNPs may be associated with the efficacy of antiviral therapy in pregnant women with high HBV viral loads.Future studies to evaluate the therapeutic value of VD and its analogs in reducing the MTCT of HBV may be justified.

Dietary vitamin D intake and vitamin D related genetic polymorphisms are not associated with gastric cancer in a hospital-based case-control study in Korea

There have been few studies on the association between vitamin D levels and gastric cancer in Asian populations,but no studies have been performed on the interactions between vitamin D intake and polymorphisms in the vitamin D pathway.The effects of vitamin D intake,vitamin D related genetic polymorphisms,and their association with the incidence of gastric cancer were investigated in a hospital case-control study,including 715 pairs of newly diagnosed gastric cancer patients and controls matched for age and sex.Correlations between vitamin D intake and plasma vitamin D concentrations were also assessed in a subset of subjects.No statistically significant difference was observed in the dietary intake of vitamin D between the patients and controls,nor were there any evident associations between vitamin D intake and risk of gastric cancer in multivariate analyses.Vitamin D intake significantly correlated with the circulating 25-hydroxyvitamin D levels,but not with the active form of the vitamin,1,25-dihydroxyvitamin D.There were no statistically significant interactions between vitamin D intake,and VDR or TXNIP polymorphisms.This study suggests that dietary vitamin D intake is not associated with gastric cancer risk,and the genetic polymorphisms of vitamin D-related genes do not modulate the effect of vitamin D with respect to gastric carcinogenesis.

Relationship between vitamin D binding protein gene polymorphism and allergic rhinitis in Hainan population

Objective: To explore the correlation between the genetic polymorphism of vitamin D binding protein gene (GC) and allergic rhinitis in Hainan population. Methods: 94 cases of patients with allergic rhinitis (AR) who visit a hospital between March 2017 and December 2017 and 113 cases of healthy controls specimen (HCs) were chosen for the research. We analyzed the 222016 and rs7041 polymorphism in the vitamin D-binding protein gene (GC) by snapshot method. Four kinds of hereditary models including co-dominant, dominant, recessive and super dominant were used to identify the significant SNPs by the online analysis software SNPStats. The statistical analysis was done by SPSS25.0. Results: As rs7041 polymorphisms loci is mentioned, the frequency of TT, GT and GG genotypes of in CR group and HC group is 40.4% VS 42.5%, 44.7% VS 42.5%, 14.9% VS 15%, respectively. Statistical analysis showed that there was no significant difference between the two groups. Three genotype were detected for rs222016 loci which is AG, GG and AA. The frequency of AG, GG and AA in CR group and HCs group is 44.8% VS 40.7%, 12.8% VS 25.7% and 40.4% VS 33.6%, with a P value of 0.062, which is close to significance. The frequency of allele G for rs222016 in the HC group was significantly higher than that in the CR group. Conclusion: There was no significant correlation between the polymorphism of rs7041 and the incidence of allergic rhinitis in Hainan population, and GG genotype and allele G of rs222016 loci was likely to be a protective factor from allergic rhinitis in Hainan.

Advances in Single Nucleotide Polymorphisms of Vitamin D Metabolic Pathway Genes and Respiratory Diseases

Vitamin D is a fat-soluble vitamin.It is an essential vitamin for human body.It has a classical effect on regulating calcium and phosphorus metabolism.Participate in cellular and humoral immune processes by regulating the growth,differentiation and metabolism of immune cells.A large number of studies in recent years have shown that vitamin D deficiency increases the incidence of respiratory diseases.Respiratory diseases mainly include bronchial asthma,chronic obstructive pulmonary disease,tuberculosis,acute upper respiratory tract infection and pneumonia.Vitamin D metabolic pathway genes play a very important regulatory role in the transformation of vitamin D into active vitamin D,including CYP2R1,CYP27B1,CYP24A1,VDBP,VDR five genes.Genetic polymorphism of genes is the molecular basis of individual differences and disease development.Therefore,this paper summarizes the research on single nucleotide polymorphism of vitamin D metabolic pathway gene and respiratory diseases.In order to provide a new idea for future treatment.