Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review

Jin, Fei; Xiong, Jian; Jing, Jia-Chen; Feng, Zhen; Qu, Lei; Shen, Xizhong

doi:10.1007/s00432-010-0970-0

Cited by 57 publications

(52 citation statements)

References 66 publications

(81 reference statements)

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“…Alcoholic steatohepatitis (ASH) and nonalcoholic steatohepatitis (NASH)-associated cirrhosis also represent common etiological factors for HCC. In addition, host genetic variants, including single nucleotide polymorphisms (SNPs), have been showed to be associated with the development and progression of HCC (Jin et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases

Khlaiphuengsin¹,

Kiatbumrung²,

Payungporn³

et al. 2016

Asian Pacific Journal of Cancer Prevention

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Background: The aim of this study was to evaluate any association between a single nucleotide polymorphism (SNP) in the patatin-like phospholipase domain containing 3 (PNPLA3) (rs738409, C>G) and the development and prognosis in patients with hepatocellular carcinoma (HCC). Materials and Methods: Two hundred heathy controls and 388 HCC cases were included: 211 with HBV, 98 patients with HCV, 29 with alcoholic steatohepatitis (ASH) and 52 with non-alcoholic steatohepatitis (NASH). The SNP was determined by real-time PCR based on TaqMan assays. Results: The prevalence of rs738409 genotypes CC, CG and GG in controls was 91 (45.5%), 88 (44.0%), and 21 (10.5%), respectively, while the corresponding genotypes in all patients with HCC was 158 (40.7%), 178 (45.9%), and 52 (13.4%). The GG genotype had significantly higher distribution in patients with ASH/NASH-related HCC compared with controls (OR=2.34, 95% CI=1.16-4.71, P=0.018), and viral-related HCC cases (OR=2.15, 95% CI=1.13-4.08, P=0.020). However, the frequency of the GG genotype was similar between controls and patients with viral-related HCC. At initial diagnosis, HBV-related HCC were larger and at more advanced BCLC stage than the other HCC groups. There were no significant differences between the GG and non-GG groups regarding clinical characteristics, tumor stage and overall survival. Conclusions: These data suggest an influence of the PNPLA3 polymorphism on the occurrence of HCC in patients with ASH/NASH but not among those with chronic viral hepatitis. However, the polymorphism was not associated with the prognosis of HCC.

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Section: Introductionmentioning

confidence: 99%

Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases

Khlaiphuengsin¹,

Kiatbumrung²,

Payungporn³

et al. 2016

Asian Pacific Journal of Cancer Prevention

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“…Therefore, it may be concluded that the GTSF1 gene may serve a role as a proliferation factor during various physiological processes, including growth, development, differentiation and reproduction in animals and plants. In terms of liver cancer, there have been numerous studies regarding the molecular markers associated with the development of liver cancer, and gene signatures with diagnostic and prognostic potential have been identified by the gene expression profiling of tumor tissues (15)(16)(17). In the present study, it was identified that GTSF1 mRNA expression in liver cancer tissue samples was increased compared with its expression in adjacent non-tumor liver tissues and healthy control liver tissues.…”

Section: Discussionmentioning

confidence: 50%

GTSF1 gene may serve as a novel potential diagnostic biomarker for liver cancer

et al. 2017

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Abstract. The gametocyte-specific factor 1 (GTSF1) gene participates in DNA methylation and retrotransposon activation in germ cells, particularly during cell proliferation. The present study aimed to assess the level of GTSF1 gene expression in liver cancer tumor tissues, and its role in human hepatoma cell lines in vitro and in a nude mouse model in vivo. GTSF1 gene expression was detected in liver cancer tumor tissues, compared with in healthy controls, via reverse transcription quantitative polymerase chain reaction. An adeno-associated virus vector was used to study tumor stem cell proliferation in vivo. A plasmid expressing GTSF1 was constructed and transfected into various human hepatoma cell lines, in order to analyze the cellular proliferation and apoptosis of liver cancer cells using small interfering (si)RNAs in vitro. In the present study, GTSF1 gene expression was detected in 18/24 (75.0%) liver cancer tumor tissues from patients with hepatocellular carcinoma (HCC), and elevated GTSF1 expression was identified in the tissue of one of 32 healthy control samples (3.13%; P<0.05). Notably, the GTSF1 gene was expressed at a higher frequency in AFP-positive HCC samples (14/16, 87.50%) compared with in AFP-negative HCC samples (4/8, 50.0%; P=0.129). In addition, there was no statistical significance between GTSF1 expression in non-HBV-infected (71.42%) and HBV-infected HCC specimens (76.47%), as determined by a χ 2 test (P=0.921). It was demonstrated that GTSF1 significantly increased the tumorigenicity of Ad-shNC-transfected (GTSF1-positive) HepG2 cells in the nude mouse xenograft model, whereas the sizes and weights of the tumors in the GTSF1-negative group were dercreased in comparison with the GTSF1-positive group (P<0.05). Reduced levels of GTSF1 mRNA, along with fewer and smaller colonies, were identified in two groups of human liver cancer cells treated with with GTSF1-targeting siRNA, when compared with cells without GTSF1 mRNA interference (P<0.05). In summary, the present study elucidated the GTSF1 mRNA expression pattern in liver cancer, and investigated the potential role of GTSF1 in tumorigenesis. The data suggest an important role for the GTSF1 gene in the molecular etiology of hepatocarcinogenesis, and indicate a potential application of GTSF1 mRNA expression in liver cancer diagnosis and therapy.

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“…Some of the confirmed risk factors include exposure of aflatoxin B, chronic infection with hepatitis B virus or hepatitis C virus, excessive consumption of alcohol and tobacco, iron overload, and diabetes (Forner et al, 2012). In the last few years, numerous studies have pointed out that SNPs of certain cancer-related genes may be associated with the initiation and progression of HCC, either independently or in cooperation with identified risk factors (Jin et al, 2011;Nahon et al, 2012). The -765G>C (rs20417) and -1195G>A (rs689466) polymorphisms in the COX-2 gene are among the most extensively studied SNPs.…”

Section: Discussionmentioning

confidence: 99%

Functional polymorphisms of the cyclooxygenase-2 gene and prognosis of hepatocellular carcinoma - a cohort study in Chinese people

Liang¹,

Yan²,

Lin³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Cyclooxygenase-2 (COX-2) influences carcinogenesis through regulation of angiogenesis, apoptosis, cytokine expression, and immune response suppression. It has been well established that COX-2 is overexpressed in a variety of human cancers, such as hepatocellular carcinoma (HCC). In this study, we aimed to evaluate the association between COX-2 polymorphisms and prognosis of HCC. We genotyped 200 HCC patients of Chinese Han descent for COX-2 gene polymorphisms (-765G>C and -1195G>A) using PCR-RFLP. Data were statistically analyzed using the Kaplan-Meier method and the Cox's proportional hazard regression model. We found that patients with the COX-2 -1195AG and -1195AG + AA genotypes demonstrated significantly decreased disease-free survival (DFS) as compared with those carrying the -1195GG genotype (P < 0.05). However, the COX-2 -765G>C polymorphism was not associated with DFS (P > 0.05). Moreover, by Cox regression analysis, blood alpha fetoprotein ≤400 ng/mL before the operation and the -1195G>A polymorphism were found to be of prognostic significance (P < 0.05), while the -765G>C polymorphism was not (P > 0.05). In summary, post-operation progression of HCC is more likely to occur in patients with the -1195AG genotype and the A allele. On the other hand, the -765G>C polymorphism is not an independent influence factor of HCC prognosis.

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Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review

Abstract: Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with moderate epidemiological evidence and deserve further study and additional biological and clinical assessment.

Cited by 57 publications

References 66 publications

Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases

Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases

GTSF1 gene may serve as a novel potential diagnostic biomarker for liver cancer

Functional polymorphisms of the cyclooxygenase-2 gene and prognosis of hepatocellular carcinoma - a cohort study in Chinese people

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