• Title/Summary/Keyword: Virus Polymorphism

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IL28B rs12979860 Gene Polymorphism in Egyptian Patients with Chronic Liver Disease Infected with HCV

  • Zekri, Abdel-Rahman N.;Salama, Hosny;Medhat, Eman;Bahnassy, Abeer A.;Morsy, Heba M.;Lotfy, Mai M.;Ahmed, Rasha;Darwish, Tarneem;Marei, Mohamad S.
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.17
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    • pp.7213-7218
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    • 2014
  • Background: Egypt has one of the highest prevalences of hepatitis C virus (HCV) infection worldwide. Although the IL28B gene polymorphism has been shown to modify the course of chronic HCV infection, this has not been properly assessed in the Egyptian population. Materials and Methods: The IL28B rs12979860 single nucleotide polymorphism (SNP) was therefore examined in 256 HCV-infected Egyptian patients (group II) at different stages of disease progression and in 48 healthy volunteers (group I). Group II was subdivided into GII-A (chronic hepatitis patients, n=119), GII-B (post hepatitis cirrhosis, n=66) and GII-C (HCC on top of cirrhosis, n=71). Results: The C/T genotype was the commonest in all groups. It was more frequent in GI (52%) than in GII (48%). There was no significant difference in the frequency of C/T and C/C or T/T genotypes between groups and subgroups (p=0.82). Within the subgroups; the C/C genotype was more common in GII-B while C/T and T/T genotypes were more common in GII-C, though with no significant difference (p=0.59 and p=0.80). There was no significant association between IL28B rs12979860 SNP and viral load, ALT, AFP level, METAVIR scores for necro-inflammation and fibrosis, and Child-Pugh classification. Conclusions: 1) IL28Brs12979860 C/T genotype is the commonest genotype in HCV-associated CH and HCC in Egypt. 2) IL28Brs12979860 polymorphisms are not associated with disease progression or aggression (histological staging, severity of fibrosis in CH or the incidence of post-HCV HCC). 3) Differences in IL28Brs12979860 genotypes could be a consequence of environmental or ethnic variation.

Role of IL-18 Gene Promoter Polymorphisms, Serum IL-18 Levels, and Risk of Hepatitis B Virus-related Liver Disease in the Guangxi Zhuang Population: a Retrospective Case-Control Study

  • Lu, Yu;Bao, Jin-Gui;Deng, Yan;Rong, Cheng-Zhi;Liu, Yan-Qiong;Huang, Xiu-Li;Song, Liu-Ying;Li, Shan;Qin, Xue
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.14
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    • pp.6019-6026
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    • 2015
  • Background: The aim of this study was to assess the relationship between IL-18 gene polymorphisms and HBV-related diseases and whether these polymorphisms influence its expression in the Guangxi Zhuang population. Materials and Methods: We enrolled 129 chronic HBV infected (CHB) patients, 86 HBV-related liver cirrhosis (LC) patients and 160 healthy controls in our study. Polymerase chain reaction-restriction fragment length polymorphism methods were used to detect IL-18 gene -607C/A, -137G/C polymorphisms, and an ELISA kit was employed to determine serum IL-18 levels. Results: No correlation was found between the -607C/A polymorphism and risk of HBV-related disease. For the -137G/C polymorphism, the GC genotype and C allele were associated with a significantly lower risk of CHB (95%CI: 0.32-0.95, p=0.034 and 95%CI: 0.35-0.91, p=0.018) and HBV-related LC (95%CI: 0.24-0.89, p=0.022 and 95%CI: 0.28-0.90, p=0.021). A similar decreased risk was also found with the A-607C-137 haplotype. With respect to IL-18 expression, it was significantly lower in both patient groups, but no association was noted between the two polymorphisms in the IL-18 gene and its expression. Conclusions: Our study indicated that the -137C allele in the IL-18 gene may be a protective factor for HBV-related disease, and serum IL-18 level may be inversely associated with CHB and HBV-related LC.

Innate Immunity and Genetic Susceptibility to Severe Respiratory Syncytial Virus Infection : Lack of an Association with Mannose Binding Lectin Gene Polymorphism (심한 Respiratory Syncytial Virus 감염증과 선천성 면역에 관련된 유전적 소인에 관한 연구 : Mannose Binding Lectin 유전자 다형성)

  • Choi, Eun Hwa;Kim, Hee Sup;Yun, Bo Young;Choi, Seung Eun;Nah, Song Yi;Kim, Dong Ho;Park, Ki Won;Lee, Hoan Jong
    • Pediatric Infection and Vaccine
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    • v.13 no.1
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    • pp.63-70
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    • 2006
  • Purpose : We hypothesized that mannose binding lectin gene(MBL2), a key molecule of innate immunity, may contirbute to the development and the outcome of respiratory syncytial virus(RSV) disease in early childhood. This study was performed to investigate the genetic basis of polymorphisms and haplotypes of MBL2 for RSV disease severity in Korean children. Methods : Cases with severe RSV diseases are 99 children with severe RSV lower respiratory tract infections, who were admitted to the Seoul National University Children's Hospital through 1993~2000. The control subjects consisted of 224 anonymous healthy Korean blood donors. The frequency of promoter variant(-221, X/Y) and structural variant(codon 54) were compared between the case patient group and the control subject group. Results : The mean age of patients was 11.8 months; 49% were <6 months, 39% were 6-24 months and 12% were >24 months. In the cohort of cases of severe RSV diseases, the genotypic frequencies of structural variant in codon 54 were 61% for AA, 34% for AB, and 5% for BB. Those of the promoter X/Y variant were 85% for YY and 15% for XY. There were no significant differences in overall distribution of both structural and promoter variants between the cases and the control subjects. We did not observe statistical difference in the haplotypic frequencies of MBL2. Conclusion : Common variants of MBL2 gene most likely do not contribute to the risk for severe RSV diseases in Korean children. Further genetic association studies should be conducted in a larger propsectively recruited cohort of children with RSV infection.

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Lack of Association between Tumor Necrosis Factor-α -308 and -238 Promoter Polymorphisms and Chronic Hepatitis B Virus Infection (종양괴사인자-α -308과 -238 promoter 다형성과 만성 B형 간염 바이러스 감염 간의 연관성 결여)

  • Jang, Won-Hee;Yang, Young-Il;Lee, Youn-Jae;Chun, Jin-Ho;Yea, Sung-Su;Seog, Dae-Hyun;Kim, Hyeong-In
    • Journal of Life Science
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    • v.18 no.9
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    • pp.1207-1211
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    • 2008
  • The pro-inflammatory cytokine tumor necrosis factor-$\alpha$ (TNF-$\alpha$) is an important mediator of the immune response in hepatitis B virus (HBV) infection. Since the production of TNF-$\alpha$ is mostly regulated at the transcriptional level and polymorphisms in the TNF-$\alpha$ promoter alter its expression, TNF-$\alpha$ promoter polymorphisms could affect the pathogenesis of chronic HBV infection. In this study, we investigated the potential association of TNF-$\alpha$ promoter polymorphisms with chronic HBV infection. The study included 181 patients with chronic HBV infection, 201 persons who had been spontaneously recovered from hepatitis B, and 170 unrelated healthy controls. The -308G/A and -238G/A polymorphisms in the TNF-$\alpha$ promoter were analyzed by PCR-restriction fragment length polymorphism. The distribution of both the -308 and -238 genotypes in the patient group was not statistically different from that in the spontaneous recovery and control groups (p>0.05). There was also no significant difference in the allele frequency between the groups (p>0.05). The results suggest that the TNF-$\alpha$ -308 and -238 promoter polymorphisms are not associated with the development of chronic HBV infection in the Korean population.

Tissues Expression, Polymorphisms Identification of FcRn Gene and Its Relationship with Serum Classical Swine Fever Virus Antibody Level in Pigs

  • Liu, Yang;Wang, Chonglong;Liu, Zhengzhu;Xu, Jingen;Fu, Weixuan;Wang, Wenwen;Ding, Xiangdong;Liu, Jianfeng;Zhang, Qin
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.8
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    • pp.1089-1095
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    • 2012
  • Neonatal Fc receptor (FcRn) gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G (IgG) and is responsible for IgG transport and stabilization. In this report, the 8,900 bp porcine FcRn genomic DNA structure was identified and putative FcRn protein included 356 amino acids. Alignment and phylogenetic analysis of the porcine FcRn amino acid sequences with their homologies of other species showed high identity. Tissues expression of FcRn mRNA was detected by real time quantitative polymerase chain reaction (Q-PCR), the results revealed FcRn expressed widely in ten analyzed tissues. One single nucleotide polymorphism (SNP) (HQ026019:g.8526 C>T) in exon6 region of porcine FcRn gene was demonstrated by DNA sequencing analysis. A further analysis of SNP genotypes associated with serum Classical Swine Fever Virus antibody (anti-CSFV) concentration was performed in three pig populations including Large White, Landrace and Songliao Black pig (a Chinese indigenous breed). Our results of statistical analysis showed that the SNP had a highly significant association with the level of anti-CSFV antibody (At d 20; At d 35) in serum (p = 0.008; p = 0.0001). Investigation of expression and polymorphisms of the porcine FcRn gene will help us in further understanding the molecular basis of the antibody regulation pathway in the porcine immune response. All these results indicate that FcRn gene might be regarded as a molecular marker for genetic selection of anti-CSFV antibody level in pig disease resistance breeding programmes.

CYP2C19 Genotype Could be a Predictive Factor for Aggressive Manifestations of Hepatocellular Carcinoma Related with Chronic Hepatitis B Infection in Thailand

  • Nun-anan, Pongjarat;Chonprasertsuk, Soonthorn;Siramolpiwat, Sith;Tangaroonsanti, Anupong;Bhanthumkomol, Patommatat;Pornthisarn, Bubpha;Vilaichone, Ratha-korn
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.8
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    • pp.3253-3256
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    • 2015
  • Background: Chronic hepatitis B virus (HBV) infection related hepatocellular carcinoma (HCC) is a major health problem in the Asia-Pacific region including Thailand. Several factors have been proposed as contributing to hepatocarcinogenesis. This study was aimed to investigate the impact of CYP2C19 genotypic polymorphism in HCC related to chronic HBV infection in Thailand. Materials and Methods: A cross-sectional study was performed between April 2014 and January 2015. Chronic HBV patients with HCC (n=50) and without HCC (n=50) were included. Clinical information and blood samples of all patients were collected. The CYP2C19 genotype was determined by polymerase chain reaction-restriction fragment length polymorphism method, and was classified as rapid metabolizer (RM), intermediate metabolizer (IM) or poor metabolizer (PM). Results: The CYP2C19 genotype frequencies of RM, IM and PM in HBV patients were found to be 19/50 (38%), 25/50 (50%) and 6/50 (12%), respectively. The CYP2C19 genotype frequencies of RM, IM and PM in HBV with HCC patients were 21/50 (42%), 25/50 (50%) and 4/50 (8%), respectively. The distribution of CYP2C19 genotype was not different between patients with and without HCC. Interestingly, among HBV with HCC patients, the RM genotype of CYP2C19 tended to increase risk of aggressive manifestation (OR=2.89, 95%CI=0.76-11.25, P-value=0.07), compared with non RM genotype carriers. Conclusions: CYP2C19 genotype IM was the most common genotype in Thai patients with chronic HBV infection. In addition, genotype RM could be an associated factor for aggressive presentation in HCC related to chronic HBV infection.

Bovine Genome-wide Association Study for Genetic Elements to Resist the Infection of Foot-and-mouth Disease in the Field

  • Lee, Bo-Young;Lee, Kwang-Nyeong;Lee, Taeheon;Park, Jong-Hyeon;Kim, Su-Mi;Lee, Hyang-Sim;Chung, Dong-Su;Shim, Hang-Sub;Lee, Hak-Kyo;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.2
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    • pp.166-170
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    • 2015
  • Foot-and-mouth disease (FMD) is a highly contagious disease affecting cloven-hoofed animals and causes severe economic loss and devastating effect on international trade of animal or animal products. Since FMD outbreaks have recently occurred in some Asian countries, it is important to understand the relationship between diverse immunogenomic structures of host animals and the immunity to foot-and-mouth disease virus (FMDV). We performed genome wide association study based on high-density bovine single nucleotide polymorphism (SNP) chip for identifying FMD resistant loci in Holstein cattle. Among 624532 SNP after quality control, we found that 11 SNPs on 3 chromosomes (chr17, 22, and 15) were significantly associated with the trait at the p.adjust <0.05 after PERMORY test. Most significantly associated SNPs were located on chromosome 17, around the genes Myosin XVIIIB and Seizure related 6 homolog (mouse)-like, which were associated with lung cancer. Based on the known function of the genes nearby the significant SNPs, the FMD resistant animals might have ability to improve their innate immune response to FMDV infection.

p53 Polymorphisms and Haplotypes as a Possible Predictor of a High-risk Group for Hepatocellular Carcinoma

  • Sato Shigeaki;Shiraki Takashi;Inoue Yoshiki;Takeshita Tatsuya;Morimoto Kanehisa
    • 대한예방의학회:학술대회논문집
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    • 1999.10a
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    • pp.1-15
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    • 1999
  • In a case-control study to evaluate the factors involved in the development of hepatocellular carcinoma, polymorphisms of the p53 gene were compared in 68 cases mostly infected with hepatitis C virus (HCV) and 68 controls matched for sex and age: DNA from peripheral blood leukocytes was analyzed by the polymerase chain reaction-single strand conformation polymorphism method and direct sequencing. Polymorphisms analyzed were those in exon 4 (CCC vs. CGC, Pro vs. Arg at codon 72, Al allele vs. A2 allele), intron 2 (C vs. G at nucleotide 38, Al vs. A2), intron 3 (C vs. A at nucleotide 65, Al vs. A2; absence and presence of 16 base pair repeat at nucleotides 24 to 39, Al vs. A2), intron 6 (A vs. G at nucleotide 62, Al vs. A2) and intron 7 (C and T vs. T and G at nucleotides 72 and 92, Al vs. A2). A significantly higher frequency of the allele for CCC (Pro, Al) at codon 72 of exon 4 was found in cases (39%) than in controls (26%) (p<0.05). Highly significant linkage of the polymorphisms in exon 4, intron 2, intron 3 and intron 7, and between the intron 3-16 bp duplication and polymorphism in intron 6 also was found. Matched Fair analysis showed significantly higher frequencies of certain haplotypes (1-1-1-1-2-2 or 1-1-2-1-2-1 for exon 4, intron 2, intron 3, the intron 3-16 bp duplication, intron 6 and intron 7) in cases than in controls (p=0.014, OR=2.27, 95% CI= 1.08-5.12). No preference of specific p53 polymorphisms for specific HCV genotype was detected. These findings suggest that in hepatocarcinogenesis mainly due to HCV infection, genetic factors may be involved and that genetic markers can serve as predictors of a high-risk group for hepatocarcinogenesis.

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Characterization of the Repetitive Sequences Present in the ORF25 Genomic Region of Megalocytiviruses from Ornamental Fishes (관상어로부터 분리한 Megalocytiviruses에서 나타나는 ORF25 유전자 부위의 반복서열 특성 분석)

  • Jin, Ji-Woong;Nam, Jeong-Hee;Kim, Kwang-Il;Hong, Su-Hee;Byon, Ju-Young;Jeong, Hyun-Do
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.44 no.4
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    • pp.352-358
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    • 2011
  • The presence of ISKNV-like viruses in various freshwater ornamental fish species imported from Asia was confirmed by polymerase chain reaction(PCR) amplification of the ATPase(adenosine triphosphatase) gene. Interestingly, molecular analyses of the Open Reading Frame 25(ORF25) region of these isolates based on the ISKNV(Infectious spleen and kidney necrosis virus) genome revealed the presence of various repetitive sequences. ORF25 repeat sequence length had no effect on cumulative mortality of rock bream Oplegnathus fasciatus challenged with tissue homogenates of infected pearl gourami, Trichogaster leeri; silver gourami, Trichogaster microlepis; blue gourami, or Trichogaster trichopterus. All isolates induce cumulative mortalities after 12 days of infection, confirming that ORF25 polymorphism did not affect the pathogenicity of ornamental fish megalocytiviruses that cross infect rock bream, a seawater fish. Also, no statistically significant differences in spleen index or viral copy number in infected tissues was detected between isolates with varying ORF25 repeat sequence lengths. However, further studies are necessary to fully characterize the functional characteristics of these polymorphisms in megalocytivirus disease in ornamental fishes.

The KIF1B (rs17401966) Single Nucleotide Polymorphism is not Associated with the Development of HBV-related Hepatocellular Carcinoma in Thai Patients

  • Sopipong, Watanyoo;Tangkijvanich, Pisit;Payungporn, Sunchai;Posuwan, Nawarat;Poovorawan, Yong
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.2865-2869
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    • 2013
  • Hepatitis B virus (HBV) infection can become chronic and if left untreated can progress to hepatocellular carcinoma (HCC).Thailand is endemic for HBV and HCC is one of the top five cancers, causing deaths among Thai HBV-infected males. A single nucleotide polymorphism (SNP) at the KIF1B gene locus, rs17401966, has been shown to be strongly associated with the development of HBV-related HCC. However, there are no Thai data on genotypic distribution and allele frequencies of rs17401966. Thai HBV patients seropositive for HBsAg (n=398) were therefore divided into two groups: a case group (chronic HBV with HCC; n=202) and a control group (HBV carriers without HCC; n=196). rs17401966 was amplified by polymerase chain reaction (PCR) and analyzed by direct nucleotide sequencing. The genotypic distribution of rs174019660 for homozygous major genotype (AA), heterozygous minor genotype (AG) and homozygous minor genotype (GG) in the case group was 49.5% (n=100), 40.1% (n=81) and 10.4% (n=21), respectively, and in controls was 49.5% (n=97), 42.3% (n=83) and 8.2% (n=16). Binary logistic regression showed that rs17401966 was not statistically associated with the risk of HCC development in Thai chronic HBV patients (p-value=0.998, OR=1.00 and 95% CI=0.68-1.48). In conclusion, the KIF1B gene SNP (rs174019660) investigated in this study showed no significant association with HBV-related HCC in Thai patients infected with HBV, indicating that there must be other mechanisms or pathways involved in the development of HCC.