Carriage of the PNPLA3 rs738409 C &gt;G polymorphism confers an increased risk of non-alcoholic fatty liver disease associated hepatocellular carcinoma

Yl, Liu; Patman, Gillian; Leathart, Julian; Piguet, Anne Christine; Burt, Alastair D.; Dufour, Jean–François; Day, Christopher P.; Daly, Ann K.; Reeves, Helen L.; Anstee, Quentin M.

doi:10.1016/j.jhep.2014.02.030

Cited by 462 publications

(373 citation statements)

References 44 publications

Supporting

Mentioning

331

Contrasting

Unclassified

Order By: Relevance

“…The minor-allele frequency also correlates with ethnic differences in susceptibility to NAFLD. Multiple histologically based studies have clearly demonstrated that the PNPLA3 I148M variant is associated with the severity of steatohepatitis and fibrosis 89 and more recently with the presence of HCC 90 .…”

Section: [H2] Geneticsmentioning

confidence: 99%

Nonalcoholic Fatty Liver Disease

Rinella

2015

JAMA

1,961

1,621

View full text Add to dashboard Cite

Section: [H2] Geneticsmentioning

confidence: 99%

Nonalcoholic Fatty Liver Disease

Rinella

2015

JAMA

1,961

1,621

View full text Add to dashboard Cite

“…Indeed, the higher number of HCC cases observed in individuals carrying the mutant allele in that study may only reflect worsening of liver injury over time rather than a direct role of PNPLA3 in liver carcinogenesis. More recently, a two-stage case-control study performed in NAFLD patients allowed for refinement of this issue [60]. While comparing genotype distributions between HCC patients and individuals from the general population, a study reported an OR of a large magnitude (12.19 95% confidence interval [6.89-21.58]).…”

Section: Pnpla3 and Hepatocellular Carcinomamentioning

confidence: 99%

PNPLA3 gene in liver diseases

Trépo

Romeo

Zucman‐Rossi

et al. 2016

Journal of Hepatology

220

196

View full text Add to dashboard Cite

“…It has been demonstrated that this SNP is related to the impairment of hepatic triglyceride hydrolysis, resulting the accumulation of triglycerides in the hepatocytes . Recent studies have shown an association between rs738409 and HCC development in NASH (Romeo et al, 2008;Valenti et al, 2013;Liu et al, 2014) and ASH (Nischalke et al, 2011;Stickel et al, 2011;Trepo et al, 2012), suggesting a carcinogenic effect by modulating lipid metabolism. However, it is not clear whether this polymorphism affects HCC development in patients with chronic viral hepatitis (Singal et al, 2014).…”

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

View full text Add to dashboard Cite

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.

show abstract

Carriage of the PNPLA3 rs738409 C >G polymorphism confers an increased risk of non-alcoholic fatty liver disease associated hepatocellular carcinoma

Cited by 462 publications

References 44 publications

Nonalcoholic Fatty Liver Disease

Nonalcoholic Fatty Liver Disease

PNPLA3 gene in liver diseases

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

Contact Info

Product

Resources

About