|(C;C)||3.1||higher odds of alcoholic liver disease, increased liver fat|
|(C;G)||2||increased liver fat, odds of alcoholic liver disease|
|(G;G)||2.1||most common genotype; slightly less damage from alcohol|
[PMID 19946271] In a Mestizo population, rs738409 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis (unadjusted odds ratio 2.25, p=1.7e-10); ancestry-adjusted OR 1.79, p=1.9 x 10(-5)).
[PMID 19224197] rs738409(G) increased quantitative measures of liver fat content
Fat content 2x for rs738409(G;G)
rs738409(G) (I148M) was strongly associated with increased hepatic fat levels (P = 5.9 times 10-10)[PMID 19651814] Dissociation between Fatty Liver and Insulin Resistance in Humans carrying a Variant of the Patatin-like Phospholipase 3 Gene
[PMID 19729411] Genetic Evidence for a Role of Adiponutrin in the Metabolism of Apolipoprotein B-Containing Lipoproteins
[PMID 19738004] A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity
[PMID 19844213] Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent
[PMID 20373368] Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease
[PMID 20684021] The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease
[PMID 20826584] Specifically PNPLA3-Mediated Accumulation of Liver Fat in Obese Patients with Type 2 Diabetes
[PMID 20585554] On the use of variance per genotype as a tool to identify quantitative trait interaction effects: a report from the Women's Genome Health Study
[PMID 21140471] Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians
[PMID 21176169] Association of the rs738409 polymorphism in PNPLA3 with liver damage and the development of nonalcoholic fatty liver disease
[PMID 21236304] Viral Genotype-Specific Role of PNPLA3, PPARG, MTTP and IL28B in Hepatitis C Virus-Associated Steatosis
[PMID 21488075] Impact of PNPLA3 (rs738409 C>G) polymorphism on fibrosis progression and steatosis in chronic hepatitis C
[PMID 21281435] Association of PNPLA3 with non-alcoholic fatty liver disease in a minority cohort: the Insulin Resistance Atherosclerosis Family Study
|Title||Genome-wide association analysis identifies variants associated with nonalcoholic Fatty liver disease that have distinct effects on metabolic traits|
|Odds Ratio||0.2600 [0.22-0.30] unit increase (GOLD)|
[PMID 21525193] Genetic variation in PNPLA3 (adiponutrin) confers sensitivity to weight loss-induced decrease in liver fat in humans
[PMID 21665509] Association of PNPLA3 SNP rs738409 with liver density in African Americans with type 2 diabetes mellitus
[PMID 22087248] The PNPLA3 rs738409 148M/M Genotype Is a Risk Factor for Liver Cancer in Alcoholic Cirrhosis but Shows No or Weak Association in Hepatitis C Cirrhosis
[PMID 22105854] A variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents
[PMID 22110053] Genetic determinants of alcoholic liver disease
[PMID 22141340] Genetic variation in PNPLA3 but not APOC3 influences liver fat in NAFLD
|Title||Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.|
|Odds Ratio||6.0000 None|
[PMID 22276112] A Common Variant of PNPLA3 (p.I148M) Is Not Associated with Alcoholic Chronic Pancreatitis
[PMID 22634340] Association of the IL28B genotype with insulin resistance in patients with chronic hepatitis C
[PMID 22629460] Hepatic Fat Accumulation Is Modulated by the Interaction between the rs738409 Variant in the PNPLA3 Gene and the Dietary Omega6/Omega3 PUFA Intake
[PMID 22719190] Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis
[PMID 22724004] Paradoxical Lower Serum Triglyceride Levels and Higher Type 2 Diabetes Mellitus Susceptibility in Obese Individuals with the PNPLA3 148M Variant
[PMID 22792295] The PNPLA3 rs738409 G-Allele Associates with Reduced Fasting Serum Triglyceride and Serum Cholesterol in Danes with Impaired Glucose Regulation
[PMID 18728122] Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity.
[PMID 18940312] Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
[PMID 19524579] Prediction of non-alcoholic fatty liver disease and liver fat using metabolic and genetic factors.
[PMID 19542081] A common variant in the adiponutrin gene influences liver enzyme values.
[PMID 20546964] The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life.
[PMID 20648472] PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.
[PMID 20648474] I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease.
[PMID 20648554] Patatin-like phospholipase domain-containing 3/adiponutrin deficiency in mice is not associated with fatty liver disease.
[PMID 20803499] A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents.
[PMID 20852027] Effects of PNPLA3 on liver fat and metabolic profile in Hispanic children and adolescents.
[PMID 20962157] Increased hepatic fat in overweight Hispanic youth influenced by interaction between genetic variation in PNPLA3 and high dietary carbohydrate and sugar consumption.
[PMID 21068004] Pnpla3/Adiponutrin deficiency in mice does not contribute to fatty liver disease or metabolic syndrome.
[PMID 21168155] A common variant in the PNPLA3 gene is a risk factor for non-alcoholic fatty liver disease in obese Taiwanese children.
[PMID 21168459] Variant adiponutrin (PNPLA3) represents a common fibrosis risk gene: non-invasive elastography-based study in chronic liver disease.
[PMID 21254164] Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians.
[PMID 21274868] Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance.
[PMID 21319195] Patatin-like phospholipase domain-containing 3 I148M polymorphism, steatosis, and liver damage in chronic hepatitis C.
[PMID 21334404] Common polymorphism in the PNPLA3/adiponutrin gene confers higher risk of cirrhosis and liver damage in alcoholic liver disease.
[PMID 21339799] Bioinformatics-driven identification and examination of candidate genes for non-alcoholic fatty liver disease.
[PMID 21381068] Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease.
[PMID 22162034] PNPLA3 (rs738409 C>G) is a common risk variant associated with hepatocellular carcinoma in alcoholic cirrhosis.
[PMID 22314430] IL28B and PNPLA3 polymorphisms affect histological liver damage in patients with non-alcoholic fatty liver disease.
[PMID 22338072] PNPLA3 is regulated by glucose in human hepatocytes, and its I148M mutant slows down triglyceride hydrolysis.
[PMID 22546774] PNPLA3 gene-by-visceral adipose tissue volume interaction and the pathogenesis of fatty liver disease: The NHLBI Family Heart Study.
|Title||Genetic Polymorphisms of the Human PNPLA3 Gene Are Strongly Associated with Severity of Non-Alcoholic Fatty Liver Disease in Japanese.|
|Odds Ratio||1.6600 None|
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23155331] PNPLA3, the triacylglycerol synthesis/hydrolysis/storage dilemma, and nonalcoholic fatty liver disease
[PMID 23269818] A common variant in the peroxisome proliferator-activated receptor-γ coactivator-1α gene is associated with nonalcoholic fatty liver disease in obese children
[PMID 23418085] Interactions of allelic variance of PNPLA3 with non genetic factors in predicting NASH and non-hepatic complications of severe obesity
[PMID 23484035] Susceptibility and Gene Interaction Study of the Angiotensin II Type 1 Receptor (AGTR1) Gene Polymorphisms with Non-Alcoholic Fatty Liver Disease in a Multi-Ethnic Population
[PMID 23512881] A gene variant of PNPLA3, but not of APOC3, is associated with histological parameters of NAFLD in an obese population
[PMID 23734760] Genetic Variation in the Patatin-Like Phospholipase Domain-Containing Protein-3 (PNPLA-3) Gene in Asian Indians with Nonalcoholic Fatty Liver Disease
[PMID 24102786] PNPLA3 I148M (rs738409) genetic variant and age at onset of at-risk alcohol consumption are independent risk factors for alcoholic cirrhosis
[PMID 24114809] Association between the PNPLA3 (rs738409 C>G) variant and hepatocellular carcinoma: evidence from a meta-analysis of individual participant data
[PMID 24125181] The Impact of PNPLA3 Polymorphisms on the Development of Hepatocellular Carcinoma in Patients with Chronic Hepatitis C Virus Infection
[PMID 24425067] Response to the letter of Limagne et al. PNPLA3 (rs738409 C>G) variant and oxidative stress due to chronic liver damage
[PMID 24477042] Genetic variants in GCKR and PNPLA3 confer susceptibility to nonalcoholic fatty liver disease in obese individuals
[PMID 24553484] Impact of Comorbid Hepatic Steatosis on Treatment of Chronic Hepatitis C in Japanese Patients and the Relationship with Genetic Polymorphism of IL28B, PNPLA3 and LDL Receptor
[PMID 22258181] A multi-ethnic study of a PNPLA3 gene variant and its association with disease severity in non-alcoholic fatty liver disease.
[PMID 22704398] PNPLA3 I148M (rs738409) genetic variant is associated with hepatocellular carcinoma in obese individuals.
[PMID 22863264] Genetic polymorphism in cyclooxygenase-2 promoter affects hepatic inflammation and fibrosis in patients with chronic hepatitis C.
[PMID 22863562] PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population.
[PMID 22869157] The impact of patatin-like phospholipase domain-containing protein 3 polymorphism on hepatocellular carcinoma prognosis.
[PMID 22878467] Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in vitro.
[PMID 22884299] PNPLA3, a genetic marker of progressive liver disease, still hiding its metabolic function?
[PMID 23032985] The interaction of rs738409, obesity, and alcohol: a population-based autopsy study.
[PMID 23069476] PNPLA3 rs738409, hepatocellular carcinoma occurrence and risk model prediction in patients with cirrhosis.
[PMID 23275357] The association between hepatic fat content and liver injury in obese children and adolescents: effects of ethnicity, insulin resistance, and common gene variants.
[PMID 23292069] Genetic signatures in choline and 1-carbon metabolism are associated with the severity of hepatic steatosis.
[PMID 23334462] Adipose tissue is inflamed in NAFLD due to obesity but not in NAFLD due to genetic variation in PNPLA3.
[PMID 23535911] Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
[PMID 23564580] Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in patients with chronic hepatitis B.
[PMID 23776098] Genetic variation in the PNPLA3 gene and hepatocellular carcinoma in USA: risk and prognosis prediction.
[PMID 23800943] Association of glucokinase regulatory gene polymorphisms with risk and severity of non-alcoholic fatty liver disease: an interaction study with adiponutrin gene.
[PMID 23815500] Oxidized fatty acids: A potential pathogenic link between fatty liver and type 2 diabetes in obese adolescents?
[PMID 24799990] Pediatric non-alcoholic fatty liver disease: New insights and future directions
[PMID 24831885] Genetic Variants in the PNPLA3 Gene Are Associated with Nonalcoholic Steatohepatitis
[PMID 24917523] Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis
[PMID 24916969] Associations of I148M variant in PNPLA3 gene with plasma ALT levels during 2-year follow-up in normal weight and overweight children: the PANIC Study
[PMID 23872669] Patatin-like phospholipase domain-containing protein 3 rs738409-G in recipients of liver transplants is a risk factor for graft steatosis
[PMID 25069572] Role of the PNPLA3 I148M Polymorphism in Nonalcoholic Fatty Liver Disease and Fibrosis in Korea
[PMID 25074358] Association between genetic variants in PNPLA3 and serum adiponectin
[PMID 25232397] Genetic variation I148M in patatin-like phospholipase 3 gene and risk of non-alcoholic fatty liver disease among Filipinos
[PMID 24349054] No correlation between PNPLA3 rs738409 genotype and fatty liver and hepatic cirrhosis in Japanese patients with HCV
[PMID 25457210] Association of diabetes and PNPLA3 genetic variants with disease severity of patients with chronic hepatitis C virus infection
[PMID 25641744] PNPLA3 Polymorphisms (rs738409) and Non-Alcoholic Fatty Liver Disease Risk and Related Phenotypes: A Meta-Analysis
[PMID 25646328] Isoleucine-to-methionine substitution at residue 148 variant of PNPLA3 gene and metabolic outcomes in gestational diabetes
[PMID 25678388] Hepatic steatosis in Wilson disease - role of copper and PNPLA3 mutations
[PMID 25676803] The 148M allele of the PNPLA3 gene is associated with plasma irisin levels in a population sample of Caucasian children: The PANIC Study
[PMID 25713769] PNPLA3 I148M associations with liver carcinogenesis in Japanese chronic hepatitis C patients
[PMID 25791171] Association Between Patatin-Like Phospholipase Domain Containing 3 Gene (PNPLA3) Polymorphisms and Nonalcoholic Fatty Liver Disease: A HuGE Review and Meta-Analysis
[PMID 25801076] PNPLA3 rs738409 I748M is associated with steatohepatitis in 434 non-obese subjects with hepatitis C
[PMID 26147768] Influence of the rs738409 polymorphism in PNPLA3 on the treatment efficacy of nonalcoholic fatty liver disease with type 2 diabetes mellitus
[PMID 26200108] Influence of the PNPLA3 rs738409 Polymorphism on Non-Alcoholic Fatty Liver Disease and Renal Function among Normal Weight Subjects
[PMID 26305067] A Variant in PNPLA3 Associated with Fibrosis Progression but not Hepatocellular Carcinoma in Patients With HCV Infection
[PMID 26337813] The impact of PNPLA3 and JAZF1 on hepatocellular carcinoma in non-viral hepatitis patients with type 2 diabetes mellitus
[PMID 26389885] Duplex High-Resolution Melting Assay for the Simultaneous Genotyping of IL28B rs12979860 and PNPLA3 rs738409 Polymorphisms in Chronic Hepatitis C Patients
[PMID 26457389] Role of the TM6SF2 rs58542926 in the pathogenesis of non-alcoholic pediatric fatty liver disease (NAFLD): A multiethnic study
[PMID 26493626] PNPLA3 rs738409 and TM6SF2 rs58542926 variants increase the risk of hepatocellular carcinoma in alcoholic cirrhosis
[PMID 23870067] Role of FDFT1 polymorphism for fibrosis progression in patients with chronic hepatitis C
[PMID 26599080] The Impact of PNPLA3 rs738409 SNP on Liver Fibrosis Progression, Portal Hypertension and Hepatic Steatosis in HIV/HCV Coinfection
[PMID 26847197] Association of PNPLA3 rs738409 and TM6SF2 rs58542926 with health services utilization in a population-based study.
[PMID 27150500] The PNPLA3 rs738409 C > G polymorphism is associated with the risk of progression to cirrhosis in NAFLD patients.
[PMID 27744419] Transcriptional regulation of PNPLA3 and its impact on susceptibility to nonalcoholic fatty liver Disease (NAFLD) in humans.
[PMID 26745088] Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases.
[PMID 28338112] PNPLA3 and RNF7 Gene Variants are Associated with the Risk of Developing Liver Fibrosis and Cirrhosis in an Eastern European Population.
|Disease||Susceptibility to Nonalcoholic Fatty Liver Disease|
|CLNDBN||Susceptibility to Nonalcoholic Fatty Liver Disease|