Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE PNPLA3 rs738409 is associated with renal glomerular and tubular injury in NAFLD patients with persistently normal ALT levels. 31519069 2020
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE In the U.S. population, PNPLA3 I148M and higher NAFLD liver fat and fibrosis scores were associated with increased liver disease mortality. 31705824 2020
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE The TM6SF2 E167K variant was associated with NAFLD in northeast China, and there was an interaction between the PNPLA3 I148M and TMS6F2 E167K variants in NAFLD. 31054977 2020
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE This study aimed to elucidate whether PNPLA3 I148M is involved in NF-kB-related inflammation regulation in NAFLD. 31793207 2020
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Patients with NAFLD carrying PNPLA3 rs738409 G>C variant are at higher risk of liver-related events and death. 31419571 2020
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver disease. 31062641 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE The PNPLA3 loss-of-function variant p.I148M is a strong genetic determinant of nonalcoholic fatty liver disease. 31454802 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Emerging evidence also suggests a potential association between patatin-like phospholipase domain-containing protein-3 (PNPLA3) rs738409 genotype (the most important genetic variant associated with NAFLD) and decreasing kidney function, independent of NAFLD. 31738141 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE The objective of the study is to explore the impact of PNPLA3 I148M polymorphism on eGFR in children with obesity with and without NAFLD. 31184438 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Polymorphisms 455 T > C of APOC3 and rs738409 C > G of PNPLA3 were associated with NAFLD. 31216264 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Metabolic syndrome (MetS) and genetic polymorphisms PNPLA3 rs7</span>38409, TM6SF2 rs58542926 and MBOAT7 rs641738 are known inductors of non-alcoholic fatty liver disease (NAFLD). 31851849 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE PNPLA3 variant rs738409 has been identified as important progression factor in patients with ALD and NAFLD, the most common liver diseases worldwide. 30362098 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE NAFLD association of PNPLA3 rs738409 was more pronounced among lean individuals (one-tailed p < 0.05) compared to the whole cohort sample. 30539516 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE PNPLA3 rs738409 polymorphism is not only a factor significantly associated with the susceptibility of NAFLD, but also related to the susceptibility of aggressive diseases. 30762732 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE In a sample of 230 overweight/obese children, 105 with NAFLD (hepatic fat fraction ≥5% by magnetic resonance imaging) and 125 without NAFLD, rs738409 in PNPLA3, rs58542926 in TM6SF2, rs1260326 in GCKR, and rs641738 in MBOAT7 were genotyped. 31505904 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE The rs738409 C>G variant of the patatin-like phospholipase domain containing 3 gene (PNPLA3) increases the risk of non-alcoholic fatty liver disease (NAFLD) with no predisposition for insulin resistance. 30673802 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE PNPLA3 I148M is associated with increased risk of prediabetes, metabolic syndrome and insulin resistance in obese patients with NAFLD. 31826069 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M (rs738409) genotype influences clinical/biochemical characteristics in patients with nonalcoholic fatty liver disease (NAFLD), but whether PNPLA3-I148M (rs738409) genotype also influences the diagnostic performance of noninvasive diagnostic tests for NAFLD is uncertain. 31677195 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Relationship Between PNPLA3 rs738409 Polymorphism and Decreased Kidney Function in Children With NAFLD. 30912854 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation GWASCAT GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. 31311600 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE NAFLD was strongly associated with three genetic variants, TM6SF2 rs58542926, PNPLA3 rs738409 and GCKR rs1260326, and more slightly with ELOVL2 rs2236212, in obese children and adolescents. 31255630 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE The PNPLA3 rs738409 C>G variant influences the association between low skeletal muscle mass and NAFLD: the Shanghai Changfeng Study. 31250467 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Combining the I148M and E167K variants in a manner of an additive effect could improve risk prediction for NAFLD in a Qingdao Han Population cohort. 30738435 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Regardless of the presence of NAFLD and common cardio-renal risk factors, in post-menopausal women with T2DM, the G/G genotype of rs738409 in the PNPLA3 gene was strongly associated with lower eGFR<sub>CKD-EPI</sub> and higher prevalence of CKD. 30763699 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE The progression of NAFLD, including nonalcoholic steatohepatitis (NASH), has a strong genetic component, and the most robust contributor is the patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 encoding the 148M protein sequence variant. 30772256 2019