229 Tgfbr3 Polymorphisms and Its Haplotypes Associated With Chronic Hepatitis B Virus Infection and Age of Hepatocellular Carcinoma Occurrence

Kim, J.-H.; Park, B.-L.; Cheong, Hyun Sub; Pasaje, Charisse Flerida A.; Bae, Joon-Seol; Lee, H.-S.; Shin, Hyoung-Doo; Kim, Y.J.

doi:10.1016/s0168-8278(11)60231-6

Cited by 5 publications

(6 citation statements)

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“…According to the literature data, polymorphism of the TGFBR 3 gene is considered as a mechanism responsible for betaglycan down-regulation of HBV-infection related hepatocellular carcinoma and ovarian cancer [ 17 , 43 , 44 , 45 ]. Bae et al [ 17 ] evaluated six SNPs, i.e., rs1805110 (p.Ser15Phe), rs2810904 (p.Ala72=), rs2306888 (p.Ser173=), rs1805113 (p.Phe675=), rs284878 (p.Thr749=) and newly identified SNP p.Thr711=, in the TGFBR 3 gene in a group consisting of 67 patients with hepatocellular carcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…Among 16 different SNPs in genes encoding components of TGFβ pathway, i.e., TGFβ1, TGFβR1/2 and betaglycan, significantly changed frequency of rs1805110 polymorphic site was found to be associated with incidence of HBV-related hepatocellular carcinoma (T allele, OR = 1.33; 95% CI = 1.09–1.63; p = 0.005) for male Chinese patients of Han ethnicity. According to the study by Kim et al [ 43 ] rs1805113 (Phe676Phe) in exon 13 and rs1805117 in 3′-UTR ( p = 0.009 and p = 0.008, respectively) polymorphisms were significantly associated with HBV clearance. In addition, Cox relative hazards analysis revealed that the GGTCAA haplotype of rs2306888 , rs1805112 , rs1805113 , rs284878 , rs1805117 and rs1804506 polymorphisms showed a significant association with the age of HCC occurrence among chronic HBV patients (relative hazard = 1.38; p = 0.007).…”

Section: Discussionmentioning

confidence: 99%

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Betaglycan Gene (TGFBR3) Polymorphism Is Associated with Increased Risk of Endometrial Cancer

Zakrzewski

Forma

Cygankiewicz

et al. 2020

JCM

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We investigated single nucleotide polymorphism (SNP) of the betaglycan gene (TGFBR3) encoding the TGFβ co-receptor in endometrial cancer (EC) and its association with betaglycan expression. The study group included 153 women diagnosed with EC and 248 cancer-free controls. SNP genotyping and gene expression were analyzed using TaqMan probes. Three out of the eight SNPs tested, i.e., rs12566180 (CT; OR = 2.22; 95% CI = 1.15–4.30; p = 0.0177), rs6680463 (GC; OR = 2.34; 95% CI = 1.20–4.53; p = 0.0120) and rs2296621 (TT; OR = 6.40; 95% CI = 1.18–34.84; p = 0.0317) were found to be significantly associated with increased risk of EC (adjusted to age, body mass index, menarche and parity). Among the analyzed SNPs, only rs2296621 demonstrated the impact on the increased cancer aggressiveness evaluated by the WHO grading system (G3 vs. G1/2, GT—OR = 4.04; 95% CI = 1.56–10.51; p = 0.0026; T—OR = 2.38; 95% CI = 1.16–4.85; p = 0.0151). Linkage disequilibrium (LD) analysis revealed high LD (r2 ≥ 0.8) in two haploblocks, constructed by rs2770186/rs12141128 and rs12566180/rs6680463, respectively. In the case of C/C haplotype (OR = 4.82; 95% CI = 1.54–15.07; p = 0.0116—Bonferroni corrected) and T/G haplotype (OR = 3.25; 95% CI = 1.29–8.15; p = 0.0328—Bonferroni corrected) in haploblock rs12566180/rs6680463, significantly higher frequency was observed in patients with EC as compared to the control group. The genotype-phenotype studies showed that SNPs of the TGFBR3 gene associated with an increased risk of EC, i.e., rs12566180 and rs2296621 may affect betaglycan expression at the transcriptomic level (rs12566180—CC vs. TT, p < 0.01; rs2296621—GG vs. TT, p < 0.001, GT vs. TT, p < 0.05). Functional consequences of evaluated TGFBR3 gene SNPs were supported by RegulomeDB search. In conclusion, polymorphism of the TGFBR3 gene may be associated with an increased EC occurrence, as well as may be the molecular mechanism responsible for observed betaglycan down-regulation in EC patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Betaglycan Gene (TGFBR3) Polymorphism Is Associated with Increased Risk of Endometrial Cancer

Zakrzewski

Forma

Cygankiewicz

et al. 2020

JCM

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“…Dynamic‐contrast enhanced abdominal MRI, bone scan, chest CT, brain MRI, brain CT, hepatic angiography or PET scan was also carried out in some patients based on the clinical decision. Cirrhosis and HCC were diagnosed as previously described, respectively.…”

Section: Methodsmentioning

confidence: 99%

Association of a microRNA‐323b polymorphism with the persistence of hepatitis B virus infection by the enhancement of viral replication

Kim

Lee

et al. 2013

Journal of Viral Hepatitis

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Recent studies have shown that some mammalian microRNAs (miRNAs) play a role in antiviral defence. However, little is known about the role of miRNA-323b in hepatitis B virus (HBV)-host interaction. We explored whether single nucleotide polymorphism (SNP) of miRNA-323b affects HBV replication in a Korean HBV cohort. Genotyping was performed in a total of 1439 subjects composed of 404 spontaneously recovered (SR) subjects as normal controls and 1035 chronic carriers (CC) of HBV who were further classified into 313 patients with chronic hepatitis, 305 patients with liver cirrhosis and 417 patients with hepatocellular carcinoma. To confirm the effect of SNP of miRNA-323b on HBV replication in vitro, HepAD38 cells were transfected with miRNA-323b wild type or miRNA-323b SNP plasmid vectors, and HBV replication was induced for 5 days. HBV DNA was isolated and quantified using real-time PCR. The polymorphism rs56103835C>T in the pre-miRNA region of miRNA-323b revealed significant minor allele frequency (0.273). rs56103835C>T SNP showed significantly affect persistence of HBV in CC group compared with SR group (OR = 1.29, P = 0.009 in a codominant model; OR = 1.29, P = 0.03 in a dominant model; and OR = 1.78, P = 0.03 in a recessive model). In vitro, the total intracellular HBV DNA content was significantly reduced by miRNA-323b wild-type plasmid vector transfection (P = 0.014). The polymorphism of miRNA-323b was significantly associated with persistence of HBV by the enhancement of HBV replication (P = 0.021). Our findings provide a novel perspective on the role SNP of miRNAs in host-virus interactions in HBV infection.

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“…Genetic factors are also likely to modify the risk of HCC development among patients with HBV infection in cases where family history of HCC is a well‐known risk factor [Yu et al, 2000]. Recent studies by the authors reported that genetic variations such as single nucleotide polymorphism (SNP) of transforming growth factor beta receptor III gene and tumor necrosis factor alpha gene are significantly associated with the risk of HCC occurrence or the clearance of HBV [Kim et al, 2003, 2011].…”

Section: Introductionmentioning

confidence: 99%

Association of polymorphism in MicroRNA 219‐1 with clearance of hepatitis B virus infection

Cheong

Shin

Kim

et al. 2013

Journal of Medical Virology

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Polymorphisms in the primary microRNA region may be associated with natural course of hepatitis B virus (HBV) infection. This study evaluated if the mircoRNA 219-1 (miR-219-1) polymorphism can influence the susceptibility towards persistence of HBV infection and the progression to hepatocellular carcinoma (HCC) in patients with chronic HBV infection. A total of 1,439 individuals having either past or present evidence of HBV infection were enrolled for the study. The subjects were divided into four groups; (1) spontaneous recovery (n = 404), (2) chronic HBV carrier (n = 313), (3) chronic HBV carrier with cirrhosis (n = 305), and (4) hepatocellular carcinoma (n = 417). Genotyping was performed at three polymorphic variants (rs421446, rs107822, and rs213210) in the pri-miRNA region of miR-219-1. The rs421446 T allele was found to be strongly associated with HBV clearance (OR = 0.73, P = 0.0005 in a codominant model and OR = 0.67, P = 0.0009 in a dominant model, OR = 0.69, P = 0.04 in a recessive model, respectively). The rs107822 G allele was also found to be associated with HBV clearance (OR = 0.79, P = 0.008 in a codominant model and OR = 0.72, P = 0.01 in a dominant model, respectively). In haplotype analysis, ht2 (T-G-T) and ht1 (C-A-C) were found to be in significant association with the clearance of HBV. However, no significant association was observed between miR-219-1 polymorphism and the risk of HCC occurrence. This result suggests that polymorphisms in the pri-miRNA region of miR-219-1 might be a genetic factor for HBV clearance after infection.

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229 Tgfbr3 Polymorphisms and Its Haplotypes Associated With Chronic Hepatitis B Virus Infection and Age of Hepatocellular Carcinoma Occurrence

Cited by 5 publications

References 0 publications

Betaglycan Gene (TGFBR3) Polymorphism Is Associated with Increased Risk of Endometrial Cancer

Betaglycan Gene (TGFBR3) Polymorphism Is Associated with Increased Risk of Endometrial Cancer

Association of a microRNA‐323b polymorphism with the persistence of hepatitis B virus infection by the enhancement of viral replication

Association of polymorphism in MicroRNA 219‐1 with clearance of hepatitis B virus infection

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