Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Carriage of HSD17B13 rs72613567:TA attenuated the risk for developing cirrhosis associated with PNPLA3 rs738409:G in both men and women but the protective effect against the subsequent development of HCC was only observed in men (p=1.72×10-4; ORallelic, 0.75; 95% CI, 0.64-0.87). 31630428 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 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: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 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: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.200 Biomarker disease BEFREE These genetic variations also did not mediate the effect of <i>PNPLA3 rs738409</i> SNP for liver developing liver fibrosis or liver cirrhosis. 30875804 2019
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 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 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 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 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 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: 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 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 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 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: 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 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 Frequency of the PNPLA3 minor (G) allele was increased in patients with NASH-cirrhosis compared with non-cirrhotic NAFLD and controls (allele frequency: 0.598 versus 0.367 versus 0.2, respectively, p < 0.001), and different between the latter two groups (p < 0.001). 27150500 2016
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 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
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 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 Moreover, PNPLA3 148M allele carriers showed an increased incidence of cirrhosis (P-value < 0.001). 24102786 2014