Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE PNPLA3 genotype was not associated with metabolic parameters, including body mass index (BMI), the presence of diabetes, and lipid levels, but the presence of the p.148M variant at risk was independently associated with steatosis [odds ratio (OR) 1.84 per p.148M allele, 95% confidence interval (CI): 1.05-3.31; P = 0.037], independently of BMI and alanine aminotransaminase (ALT) levels. 22719190 2012
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Before 2008, candidate gene studies based on prior knowledge of pathophysiology of fatty liver yielded conflicting results.In 2008, Romeo et al. published the first genome wide association study and reported the strongest genetic signal for the presence of fatty liver (PNPLA3, patatin-like phospholipase domain containing 3; rs738409). 22093607 2012
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Previous studies of the PNPLA3 I148M sequence variant in HCV infected individuals have reported an association between this variant and prevalence of steatosis, fibrosis, and cirrhosis. 22978414 2012
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE The rs738409" genes_norm="80339">I148M (rs738409) genetic variant of patatin-like phospholipase domain-containing 3 gene (PNPLA3) is known to modulate hepatic triglyceride accumulation, leading to steatosis. 22724004 2012
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Several host genetic polymorphisms (IL28B, PNPLA3) modify treatment-outcome, the degree of steatosis or fibrosis. 22634340 2012
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE The rs738409 genetic variant in the patatin-like phospholipase domain-containing 3 (PNPLA3, adiponutrin) gene has been implicated as a genetic determinant of the entire spectrum of liver diseases, ranging from steatosis, chronic hepatitis, cirrhosis and ultimately to HCC. 23333103 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic resonance imaging and circulating levels of cytokeratin-18 (CK-18) fragments, a robust NASH biomarker, and to explore the impact on this association of ethnicity, insulin resistance, and single nucleotide polymorphisms (SNPs) associated with steatosis (rs738409 in the PNPLA3, rs1260326 in the GCKR) or NASH severity (rs2645424 in the FDFT1). 23275357 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Recently, a sequence variation within the gene encoding for patatin-like phospholipase containing 3 (PNPLA3, rs738409) was found to modulate steatosis, inflammation and fibrosis in NAFLD. 22884299 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Relationship between waist circumference and liver steatosis was analysed for the different PNPLA3 genotypes. 23808989 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emerged as a major genetic determinant of hepatic steatosis and nonalcoholic steatohepatitis as well as its pathobiological sequelae fibrosis, cirrhosis, and hepatocellular cancer. 24222094 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 AlteredExpression disease BEFREE Reducing pnpla3 expression prevented hepatic steatosis, which could be attributed to decreased fatty acid esterification measured by the incorporation of [U-(13) C]-palmitate into hepatic triglyceride. 23175050 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE We used data from the National Health and Nutrition Examination Survey III to validate the association between rs738409 (PNPLA3), rs780094 (GCKR), and rs4240624 (PPP1R3B) with HS, with or without increased levels of ALT, among 3 different ancestries. 23416328 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domain-containing protein 3, PNPLA3) has been associated with hepatic steatosis and liver fibrosis. 23418085 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 Biomarker disease BEFREE In fact, the probability of more severe steatosis was higher (37%, 95% CI 26-48%) for the PNPLA3 M/M versus I/M genotype and lower (-12%, 95% CI -21% to -3%) for the I/I versus I/M genotype (Somers' D for repeated measures). 24074360 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Recent reports have suggested that PNPLA3, IL28B and TLR4-associated single nucleotide polymorphisms (SNPs) may have an impact on hepatic steatosis or fibrosis in patients with chronic HCV infection. 24349054 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Independent predictors of severe steatosis were BMI (OR, 3.60; CI, 1.39-9.22; for BMI ≥27.5 kg/m(2) ) and PNPLA3 148M allele (OR, 6.03; CI, 1.23-5.0; for each 148M allele). 23564580 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE The PNPLA3 variant was associated with more severe features of steatohepatitis: steatosis (P < 0.001), lobular inflammation (P < 0.001), and ballooning (P = 0.002), but not with liver fibrosis, anthropometry, or insulin resistance. 23512881 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Patatin-like phospholipase domain-containing protein 3 rs738409-G in recipients of liver transplants is a risk factor for graft steatosis. 23872669 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE Moreover, we genotyped the same patients for the patatin-like phospholipase-containing domain 3 (PNPLA3) I148M polymorphism, which is implicated in the development of liver steatosis. 25250621 2014
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE In multivariable analysis, HIV infection was associated with a lower prevalence of fatty liver (odds ratio (OR)=0.44, P=0.002), whereas a higher prevalence of fatty liver was seen in participants with PNPLA3 (rs738409) non-CC genotype (OR=2.06, P=0.005), more abdominal visceral adipose tissue (OR=1.08 per 10 cm(2), P<0.001), and homeostatic model assessment of insulin resistance (HOMA-IR) ≥4.9 (OR=2.50, P=0.001). 24642579 2014
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE SNP rs738409 in the adiponutrin gene (PNPLA3) is a well described factor for steatosis. 23870067 2014
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE PNPLA3 gene polymorphism accounts for fatty liver in community subjects without metabolic syndrome. 24417250 2014
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE As PNPLA3 I148M is a strong and inherited determinant of liver fat without affecting insulin resistance and lipid levels, these data suggest that steatosis has a causal role in determining serum Fetuin-A levels. 24828988 2014
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 GeneticVariation disease BEFREE In this study, we show that only in subjects with hepatic steatosis, the OXFAs are associated with the CK-18 and that this association is modulated by the PNPLA3 rs738409 variant. 23815500 2014
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.500 AlteredExpression disease BEFREE Our results provide evidence that PNPLA3 expression is an early signal/signature of carbohydrate-induced lipogenesis, but its expression is not associated with steatosis per se. 25060692 2014