rs738409, PNPLA3

N. diseases: 88
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Respiratory Tract Infections
CUI: C0035243
Disease: Respiratory Tract Infections
0.010 GeneticVariation BEFREE Patatin-like phospholipase domain-containing protein 3 (PNPLA3) rs738409 polymorphism is associated with NAFLD severity and the PNPLA3 gene is expressed in the kidneys, but whether PNPLA3 rs738409 polymorphism is also associated with renal tubular injury (RTI) is uncertain. 31519069 2020
Renal tubular injury
CUI: C4324374
Disease: Renal tubular injury
0.010 GeneticVariation BEFREE Patatin-like phospholipase domain-containing protein 3 (PNPLA3) rs738409 polymorphism is associated with NAFLD severity and the PNPLA3 gene is expressed in the kidneys, but whether PNPLA3 rs738409 polymorphism is also associated with renal tubular injury (RTI) is uncertain. 31519069 2020
Liver Failure
CUI: C0085605
Disease: Liver Failure
0.010 GeneticVariation BEFREE PNPLA3 rs738409 G allele carriers with genotype 1b HCV cirrhosis have lower viral load but develop liver failure at younger age. 31527889 2019
alcohol-related liver disease
CUI: C0810031
Disease: alcohol-related liver disease
0.010 GeneticVariation BEFREE Recently, rs72613567:TA in hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) was shown to be associated with a reduced risk for developing alcohol-related liver disease and to attenuate the risk associated with PNPLA3 rs738409:G. This study explores the risk-associations between these two genetic variants and the development of alcohol-related cirrhosis and HCC. 31630428 2019
Hepatitis
CUI: C0019158
Disease: Hepatitis
0.010 GeneticVariation BEFREE The I148M variant of the Patatin-like phospholipase domain-containing 3 (PNPLA3) protein is associated with an increased risk for liver inflammation and hepatocellular carcinoma (HCC), but the underlying mechanism is unknown. 31637480 2019
Prediabetes syndrome
CUI: C0362046
Disease: Prediabetes syndrome
0.010 GeneticVariation BEFREE PNPLA3 I148M is associated with increased risk of prediabetes, metabolic syndrome and insulin resistance in obese patients with NAFLD. 31826069 2019
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.010 GeneticVariation BEFREE Evidence is emerging that PNPLA3 rs738409 polymorphism (the major genetic variant associated with susceptibility to non-alcoholic fatty liver disease [NAFLD]) is associated with chronic kidney disease (CKD) in non-diabetic individuals. 30763699 2019
Human immunodeficiency virus (HIV) II infection category B1
0.010 GeneticVariation BEFREE Human immunodeficiency virus (HIV)-induced metabolic abnormalities and antiretroviral therapy (ART), genetic factors, most importantly the rs738409 C > G p.I148M variant in the patatin-like phospholipase domain containing 3 (PNPLA3)-gene, as well as hepatitis C virus (HCV) coinfection may all cause hepatic steatosis (HS). 31067123 2019
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
0.010 GeneticVariation BEFREE Accordingly, the naringenin-betaine cocrystals showed improved anti-hyperlipidemia effects on the C57 BL/6J PNPLA3 I148M transgenic mouse hyperlipidemia model. 30771018 2019
Chronic Liver Failure
CUI: C2936476
Disease: Chronic Liver Failure
0.010 GeneticVariation BEFREE Our results suggest that PNPLA3 rs738409 G allele carriage may be associated with a faster progression of HCV cirrhosis to chronic liver failure. 31527889 2019
End Stage Liver Disease
CUI: C0745744
Disease: End Stage Liver Disease
0.010 GeneticVariation BEFREE Our results suggest that PNPLA3 rs738409 G allele carriage may be associated with a faster progression of HCV cirrhosis to chronic liver failure. 31527889 2019
HCV coinfection
CUI: C1698259
Disease: HCV coinfection
0.010 GeneticVariation BEFREE Human immunodeficiency virus (HIV)-induced metabolic abnormalities and antiretroviral therapy (ART), genetic factors, most importantly the rs738409 C > G p.I148M variant in the patatin-like phospholipase domain containing 3 (PNPLA3)-gene, as well as hepatitis C virus (HCV) coinfection may all cause hepatic steatosis (HS). 31067123 2019
Posterior subcapsular cataract
CUI: C0858617
Disease: Posterior subcapsular cataract
0.010 GeneticVariation BEFREE PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC. 30161167 2018
Asthma
CUI: C0004096
Disease: Asthma
0.010 GeneticVariation BEFREE We describe associations that may predict ADEs, e.g., acne, high cholesterol, gout, and gallstones with rs738409 (p.I148M) in PNPLA3 and asthma with rs1990760 (p.T946A) in IFIH1. 30327483 2018
Chronic viral hepatitis
CUI: C0276623
Disease: Chronic viral hepatitis
0.010 GeneticVariation BEFREE The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent major genetic risk factors for progressive liver injury in nonalcoholic fatty liver disease (NAFLD), alcoholic liver disease (ALD) and chronic viral hepatitis. 30161167 2018
22q13.3 Deletion Syndrome
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
0.010 GeneticVariation BEFREE Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism. 30308089 2018
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
0.010 GeneticVariation BEFREE Screening for the p.I148M variant can identify PMS patients at higher risk for liver dyfunction and help designing personalized therapeutic protocols. 30308089 2018
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
0.010 GeneticVariation BEFREE PNPLA3 rs738409 Polymorphism Predicts Development and Severity of Hepatic Steatosis but Not Metabolic Syndrome in Celiac Disease. 30189691 2018
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
0.010 GeneticVariation BEFREE PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: A prospective analysis of 178 patients with PSC. 30161167 2018
Premenstrual syndrome
CUI: C0033046
Disease: Premenstrual syndrome
0.010 GeneticVariation BEFREE Screening for the p.I148M variant can identify PMS patients at higher risk for liver dyfunction and help designing personalized therapeutic protocols. 30308089 2018
Premature coronary artery atherosclerosis
0.010 GeneticVariation BEFREE The results suggest that the I148M/PNPLA3 (rs738409) polymorphism is associated with the presence of pCAD in T2DM patients and with some cardiometabolic parameters. 27615511 2017
Insulin resistance syndrome
CUI: C3714619
Disease: Insulin resistance syndrome
0.010 GeneticVariation BEFREE The I148M variant in PNPLA3 and the E167K variant in TM6SF2 are both associated with increased liver fat content, but not features of the metabolic/insulin resistance syndrome. 27432073 2016
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
0.010 GeneticVariation BEFREE PNPLA3 rs738409 G allele carriers were found to be more susceptible to the metabolic-related hepatic steatosis, and developed NAFLD and liver fibrosis despite presenting relatively better metabolic statuses and lower risks for carotid atherosclerosis. 26765961 2016
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE The PNPLA3 I148M (rs738409) genotype was performed by Taqman assays in 158 individuals from Southern Italy (namely, Catanzaro cohort) and in 207 individuals from Northern Italy (namely, Milan cohort) with a definite diagnosis of IBD. 26355465 2016
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
0.010 GeneticVariation BEFREE The patatin-like phospholipase 3 (PNPLA3) polymorphism rs738409 (c.444C>G) is associated with the risk of NAFLD and/or renal dysfunction; however, the influence of the weight status on the associations remains unknown. 26200108 2015