Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease 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
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Carriage of rs738409:G in PNPLA3 is associated with an increased risk of developing alcohol-related cirrhosis and has a significant negative effect on survival. 28161471 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Genetic variants in PNPLA3 and TM6SF2 predispose to the development of hepatocellular carcinoma in individuals with alcohol-related cirrhosis. 29535416 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Whether the PNPLA3 rs738409 polymorphism could be a risk factor for the development of hepatocellular carcinoma (HCC) in cirrhosis patients is unknown. 21745286 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE No significant differences in the genotype distribution of PNPLA3 (P = 0.90) or TM6SF2 (P = 0.72) were observed between patients with cirrhosis and patients without cirrhosis. 30161167 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE TM6SF2 C/T or T/T in conjunction with PNPLA3 G/G variants may be potential genetic risk factors for developing HCC in alcohol-related cirrhosis. 26493626 2016
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE The PNPLA3 CG/GG SNP at rs738409 was significantly associated with the presence of cirrhosis (odds ratio [OR], 1.76; 95% confidence interval [CI], 1.34-2.30), after adjusting for age, sex, diabetes, and race. 26305067 2016
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Correction: Genetic Variants in PNPLA3 and TM6SF2 Predispose to the Development of Hepatocellular Carcinoma in Individuals With Alcohol-Related Cirrhosis. 29895985 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 Biomarker disease BEFREE Personalized strategies employing the genetic risk conferred by ATG16L1 and PNPLA3 may be used for risk-based surveillance in cirrhosis. 31484215 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE The -1195GG genotype of single nucleotide polymorphism (SNP) in COX-2 promoter was associated with low platelet counts in patients with chronic hepatitis C. Polymorphism of patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene (rs738409 C>G) have been reported to be associated with cirrhosis, and the major genotype of SNPs near interleukin (IL)28B are related to viral clearance. 22863264 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE The PNPLA3 Genetic Variant rs738409 Influences the Progression to Cirrhosis in HIV/Hepatitis C Virus Coinfected Patients. 27973562 2016
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE This meta-analysis pooled four studies with 1135 cases of chronic hepatitis B (CHB) to evaluate the impact of PNPLA3 SNP on liver steatosis and also pooled five studies with 3713 cases of CHB to evaluate the impact of PNPLA3 SNP on cirrhosis. 29218813 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and cirrhosis was evaluated by logistic regression analysis. 22719190 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 Biomarker disease BEFREE Among them, 86 patients who were followed up for >5 years and without liver cirrhosis were analyzed to clarify the relationship between PNPLA3 genotype and long-term changes in biomarkers. 27862719 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Among 270 HBV-infected patients, concurrent fatty liver was found in 107 patients (39.6%) and was associated with metabolic risks, cirrhosis (P = 0.016) and PNPLA3 rs738409 CG/GG genotype (P = 0.002). 27547913 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Homozygous carriers of the PNPLA3 variant are prone to develop cirrhosis in the absence of other risk factors such as alcohol or viral hepatitis. 24222094 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE PNPLA3 genotypes were also associated with higher risk of developing liver fibrosis and cirrhosis in dominant (aOR: 1.98, P=2.20*10-5; aOR: 1.67, P=0.008, respectively) and recessive (aOR: 3.94, P=5.16*10-5; aOR: 3.02, P=0.003, respectively) models. 28338112 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Furthermore, using two histologically characterized cohorts encompassing steatosis, steatohepatitis, fibrosis and cirrhosis (combined n=1,074), we demonstrate a new association, independent of potential confounding factors (age, BMI, type 2 diabetes mellitus and PNPLA3 rs738409 genotype), with advanced hepatic fibrosis/cirrhosis. 24978903 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Of note, the PNPLA3 risk variant advances fibrosis in the total cohort as well as in the subgroups of patients with viral hepatitis and non-viral liver diseases and contributes 16% of the total cirrhosis risk. 21168459 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE We identified variants in the MBOAT7 (P = 1.03 × 10(-9)) and TM6SF2 (P = 7.89 × 10(-10)) genes as new risk loci and confirmed rs738409 in PNPLA3 as an important risk locus for alcohol-related cirrhosis (P = 1.54 × 10(-48)) at a genome-wide level of significance. 26482880 2015
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Moreover, PNPLA3 148M allele carriers showed an increased incidence of cirrhosis (P-value < 0.001). 24102786 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE PNPLA3 I148M was associated with a stepwise increase in liver fat content of up to 28% in MM vs. II-homozygotes (P-trend = 0.0001) and with ORs of 2.03 (1.52-2.70) for NAFLD (P = 3×10-7), 3.28 (2.37-4.54) for cirrhosis (P = 4×10-12), and 0.95 (0.86-1.04) for IHD (P = 0.46). 29228164 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE According to ultrasound examinations, no association between PNPLA3 rs738409 genotype and fatty change of the liver or hepatic cirrhosis was found in Japanese patients infected with HCV. 24349054 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease 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
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 GeneticVariation disease BEFREE Our findings suggest that patients at risk for liver cirrhosis may benefit from PNPLA3 genotyping and thus more intensive monitoring if the rs738409 C>G polymorphism is identified. 25378656 2015