Association of VDR (rs2228570, rs731236, rs7975232, rs1544410) and DBP (rs7041) genes polymorphisms with chronicity of hepatitis B in Iranian patients

Adhyapak

et al. 2022

Preprint

Background: Polymorphism in genes associated with Vitamin-D metabolism and its receptor molecule altogether modulates the level of active serum Vitamin-D level and as such serves as potent immune modulator. Impact of this polymorphism on outcome of HBV related liver disease is poorly understood till date. Aim: This study focus on analysing the VDR polymorphism (TaqI, ApaI, and BsmI) and its associated molecules GC-Globulin and CYP2R1 among HBV infected patients and its probable correlation with disease progression. Method: Three hundred forty HBV infected patients belonging to three distinct clinical groups, Acute Viral hepatitis (AVH, n=205), Chronic Hepatitis (CH, n=84) and hepatocellular carcinoma (HCC, n = 51) along with 102 healthy control were included in the study. VDR, GC and CYP2R1 polymorphism were genotyped by PCR-RFLP method followed by Sanger sequencing. Haplotype distribution was analysed using SHEsis software. Logistic regression analysis was performed to find the association between different genotype and VDR haplotype with progression of liver disease. Further, an SVM based prediction model has also been described in detection of different disease stage. Results and Conclusion: Apa-I CC genotype was more frequently observed among chronic HBV patients and HCC than the acute cases among North east Indian population (OR = 2.241, C.I = 0.504- 5.558. p= 0.001). The occurrence of bAt haplotype was also found to be significantly higher among Chronic (p=0.004) and HCC (p=0.001<0.05) cases in comparison to acute cases. Further, logistic regression analysis after adjusting covariates like age, gender, serum AST/ALT level, serum albumin and platelet count, showed that Apa-I CC genotype and bAt haplotype were independent predictors for advancement of acute to chronic HBV infection and further. The SVM based prediction model using similar covariates also predicts the different disease stage with 90% accuracy.

Section: Detection Of Cyp2r1 Polymorphism At Rs10741657supporting

confidence: 92%

Association of Vitamin-D Receptor (Vdr), Gc-globulin and Cyp2r1 Polymorphism With Progression of Hbv Related Liver Disease Along With an Exclusive Svm Based Disease Prediction Model

Adhyapak

et al. 2022

Preprint

“…The sequences of all primers were presented in Table 1 . Then, PCR was performed to amplify the targeted segment using specific primers for each gene segment according to a previously published study (Bahrami et al., 2020 ). To confirm the presence of the desired band, the PCR product was electrophoresed on 1% agarose gel.…”

Section: Methodsmentioning

confidence: 99%

“…Helicobacter pylori gastric tuberculosis and pneumococcal diseases (Hill, 2006;Martins et al, 2018). It is well-acknowledged that the direct or indirect role of genetic polymorphisms in human genes could influence host immune response and disease outcomes (Bahrami et al, 2020).…”

Section: Introductionmentioning

confidence: 99%

“…Numerous studies have shown that the host genetic factors play an essential role in determining host sensitivity to human infectious diseases such as malaria, human immunodeficiency virus (HIV), Helicobacter pylori gastric tuberculosis and pneumococcal diseases (Hill, 2006 ; Martins et al., 2018 ). It is well‐acknowledged that the direct or indirect role of genetic polymorphisms in human genes could influence host immune response and disease outcomes (Bahrami et al., 2020 ).…”

Section: Introductionmentioning

confidence: 99%

“…VDR is the DNA‐binding transcription factor that is activated in the presence of bioactive vitamin D (or calcitriol) and subsequently causes the transcription of abundant genes. VDR has regulatory effects on calcitriol in numerous tissues (Bahrami et al., 2020 ). DBP can play an essential role in the immune system by transporting fatty acids such as proteoglycans (Bouillon et al., 2019 ).…”

Section: Introductionmentioning

confidence: 99%

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VDR gene polymorphisms are associated with the increased susceptibility to COVID‐19 among iranian population: A case‐control study

Jafarpoor

Jazayeri

Bokharaei‐Salim

et al. 2022

Int J Immunogenetics

Self Cite

Coronavirus disease 2019 (COVID-19) is an infectious disease caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), but the pathogenesis is unclear. Host genetic background is one of the main factors influencing the patients' susceptibility to several viral infectious diseases. This study aimed to investigate the association between host genetic polymorphisms of two genes, including vitamin D receptor (VDR) and vitamin D binding protein (DBP), and susceptibility to COVID-19 in a sample of the Iranian population. This case-control study enrolled 188 hospitalized COVID-19 patients as the case group and 218 suspected COVID-19 patients with mild signs as the control group. The VDR (rs7975232, rs731236 and rs2228570) and DBP (rs7041) gene single nucleotide polymorphisms (SNPs) were genotyped by Polymerase Chain Reaction Restriction -Fragment Length Polymorphism (PCR-RFLP) method. A significant association between rs2228570 SNP in the VDR gene and the susceptibility

Frequency of rs2228570 single nucleotide polymorphism of Vitamin-D Receptor (VDR) gene among the Kazakh ethnic group

Protas¹,

Pogossyan²,

Li³

et al. 2023

BMG

The article presents the results of the study of vitamin D receptor (VDR) gene rs2228570 single nucleotide polymorphism (SNP) genotypes and individual alleles frequency among the Kazakh ethnic group representatives living in the Karaganda region. This SNP was determined by real-time polymerase chain reaction using TaqMan technology. The study relevance is due to the fact that genetic variations in rs2228570 affect the synthesis of the VDR protein and its activity as a transcription factor that regulates the expression of other genes. This mechanism determines the association of individual rs2228570 genotypes or alleles with susceptibility, course, and outcomes of various diseases. The polymorphism frequency may be depending on ethnicity. According to the study results, the most common genotypes of rs2228570 SNP among the Kazakhs were AG (32.8 %) and GG (25.2 %). The rarest are homozygotes TT (1.7 %) and CC (0.8 %). The frequency of all rs2228570 alleles was detected simultaneously in the present study for the first time. G became the predominant allele (51.3 %), less common was A (31.0 %), and the C and T alleles were the rarest (11.8 % and 5.9 %, respectively). The potential value of this SNP further study as a possible factor influencing the body’s susceptibility to various diseases, including COVID-19, is shown.