Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE PNPLA3 rs738409 G allele carriers with genotype 1b HCV cirrhosis have lower viral load but develop liver failure at younger age. 31527889 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE We compared distributions of PNPLA3 genotypes in 80 and 81 Caucasian patients with alcoholic and hepatitis C virus (HCV)-associated HCC to 80 and 81 age- and sex-matched patients with alcohol-related and HCV-related cirrhosis without HCC, respectively. 22087248 2011
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE The PNPLA3 GG genotype was significantly associated with underlying cirrhosis in HCC patients (OR = 2.48; 95% CI, 1.05-5.87). 23776098 2013
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE Second, although the strongest genetic risk alleles for NAFLD (ie, the 148Met allele in PNPLA3 and the 167Lys allele in TM6SF2) are associated with increased liver fat content and progression to NASH and cirrhosis, these alleles are also unexpectedly associated with an apparent protection from cardiovascular disease. 30174213 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 Biomarker disease BEFREE The familiality and hereditability of alcohol-related cirrhosis is not as well-documented but three strong candidate genes PNPLA3, TM6SF2 and MBOAT7, have been identified. 27575312 2017
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE In ALD&NAFLD patients, the PNPLA3 148M allele was associated with younger age, shorter history of cirrhosis, less advanced (Child A) cirrhosis at HCC diagnosis, and lower HCC differentiation grade (p<0.05). 24155878 2013
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE The rs738409 (rs738409" genes_norm="80339">I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis. 25378656 2015
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE The PNPLA3 Genetic Variant rs738409 Influences the Progression to Cirrhosis in HIV/Hepatitis C Virus Coinfected Patients. 27973562 2016
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE Prdevious meta-analyses assess whether or not patatin-like phospholipase domain containing 3 (PNPLA3) (rs738409 C > G) was associated with increased risk of hepatocellular carcinoma (HCC) in Caucasians patients with hepatitis C virus (HCV)-related cirrhosis, these meta-analyses did not provide firm conclusions. 29089161 2018
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE The population attributable risk of cirrhosis in alcoholic carriers of allele PNPLA3 rs738409(G) was estimated at 26.6%. 21254164 2011
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 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: C1623038
Disease: Cirrhosis
Cirrhosis
0.100 GeneticVariation disease BEFREE Common polymorphism in the PNPLA3/adiponutrin gene confers higher risk of cirrhosis and liver damage in alcoholic liver disease. 21334404 2011