rs738409, PNPLA3

N. diseases: 88
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Our findings indicated that the <i>PNPLA3</i> rs738409 polymorphism may serve as a potential biological marker of hepatocellular carcinoma in Caucasians. 30852978 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Expandable primary human (upcyte®) hepatocytes and human PLC/PRF/5 hepatoma cells were lentivirally transduced with both PNPLA3 I148M variants and stimulated with lipids. 31637480 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Therefore, PNPLA3 rs738409 C > G polymorphism may be a risk factor for virus and alcoholic-related HCC. 30403964 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE G allele of PNPLA3 rs738409 variant was significantly higher in NBNC-HCC (49%) compared to healthy controls (32%), HBV-HCC (32%) and HCV-HCC (31%) (P < 0.001). 30506232 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Carriage of HSD17B13 rs72613567:TA was associated with a lower risk for both cirrhosis (OR 0.79 [95% CI 0.72-0.88], p=8.13×10-6) and HCC (OR 0.77 [95% CI 0.68-0.89], p=2.27×10-4), while carriage of PNPLA3 rs738409:G was associated with an increased risk for developing cirrhosis (OR 1.70 [95% CI 1.54-1.88], p=1.52x10-26) and HCC (OR 1.77 [95% CI 1.58-1.98], p=2.31×10-23). 31630428 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE In conclusion, PNPLA3-rs738409 and TM6SF2-rs58542926 are inherited risk variants of HCC development in patients with ALD in a dose dependent manner. 30289982 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE In this longitudinal study with liver biopsy to stage liver fibrosis, we affirm there is no influence of the rs738409 (GG) genotype on the occurrence of HCC in Asian CHC patients, including cirrhotic patients. 29089161 2018
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Carriage of both PNPLA3 rs738409 and TM6SF2 rs58542926 accounts for half of the attributable risk for HCC in this population. 29535416 2018
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Patatin-like phospholipase domain containing 3 (PNPLA3) rs738409 (encoding the I148M variant) has been associated with advanced fibrosis and HCC. 27862719 2017
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Recently, the MICA rs2596542 and DEPDC5 rs1012068 variants in Japanese individuals as well as the HCP5 rs2244546 and PNPLA3 rs738409 variants in European individuals have been found associated with hepatocellular carcinoma (HCC). 28928439 2017
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE These results demonstrate significant associations between both rs430397 and rs738409 and HCC development in a Sicilian cohort. 27888630 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) near the epidermal growth factor (EGF) (rs4444903), IL28B (rs12979860), and PNPLA3 (rs738409) loci are associated with treatment response, fibrosis, and hepatocellular carcinoma in non-transplant hepatitis C, but allograft population data are limited. 26854475 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE This study assessed the interaction between PNPLA3 rs738409 and TM6SF2 rs58542926 variants in the conditioning of HCC development. 26493626 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE The SNP rs738409 located in PNPLA3 was the greatest risk factor associated with HCC. 26337813 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE The I148M variant has a strong impact on the full spectrum of liver damage related to fatty liver, encompassing non-alcoholic steatohepatitis, advanced fibrosis, and hepatocellular carcinoma, and influences the response to therapeutic approaches. 26409295 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Based on data from the HALT-C trial, the PNPLA3 CG/GG SNP at rs738409 is associated with fibrosis progression but not development of HCC in patients with HCV infection. 26305067 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Our meta-analysis indicates that I148M polymorphism in the ADPN gene may independently contribute to the progression of HCC irrespective of the etiologies. 26632699 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE PNPLA3 genetic polymorphism (rs738409 C>G) is associated with increased risk for the entire spectrum of ALD among drinkers including ALI, AC, and HCC. 25964223 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE 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%). 26745088 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown. 25504078 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Overall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in patients with cirrhosis of European descent and provide a strong argument for performing further mechanistic studies to better understand the role of PNPLA3 in HCC development. 24114809 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Variation at rs738409 was not associated with significant changes in resolution rate of hepatitis C. By contrast, M/M genotype, present at higher frequencies (22.8%) in HCC patients than in patients with chronic hepatitis C (8.5%, P = 0.004) or control individuals (9.1%, P = 0.005) was associated with a 3-fold increase of liver cancer risk. 24269995 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE The PNPLA3 I148M sequence variant favors hepatic lipid accumulation and confers susceptibility to hepatic fibrosis and hepatocellular carcinoma. 25171251 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE In particular, the common I148M variant of the PNPLA3 gene influencing hepatic lipid metabolism influences HCC risk independently of its effect on the progression of liver fibrosis. 25278690 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Carriage of the PNPLA3 rs738409 C >G polymorphism is not only associated with greater risk of progressive steatohepatitis and fibrosis but also of HCC. 24607626 2014