rs738409, PNPLA3

N. diseases: 88
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Both variant alleles were associated with decreased prevalence of obesity (P<0.05); odds ratio 0.75 (0.61-0.93) per carried Ile-allele for rs738409 and 0.80 (0.64-1.00) per carried G-allele for rs2072907. 18728122 2008
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Our aims were to develop a method to accurately predict non-alcoholic fatty liver disease (NAFLD) and liver fat content based on routinely available clinical and laboratory data and to test whether knowledge of the recently discovered genetic variant in the PNPLA3 gene (rs738409) increases accuracy of the prediction. 19524579 2009
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE G allele carriers of the SNP rs738409 had higher liver fat (P < 0.0001) and an odds ratio of 2.38 (95% CI 1.37-4.20) for having fatty liver compared to C allele homozygotes. 19651814 2009
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE G allele carriers of the SNP rs738409 had higher liver fat (P < 0.0001) and an odds ratio of 2.38 (95% CI 1.37-4.20) for having fatty liver compared to C allele homozygotes. 19651814 2009
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE The rs738409 G allele was significantly associated with NAFLD (P < 0.001; OR 2.8 95%, CI 1.5-5.2), independent of age, sex, body mass index (BMI), and Homeostasis Model Assessment (HOMA) index. 19738004 2009
Obesity, Morbid
CUI: C0028756
Disease: Obesity, Morbid
0.020 GeneticVariation BEFREE Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent. 19844213 2010
Liver Cirrhosis, Alcoholic
CUI: C0023891
Disease: Liver Cirrhosis, Alcoholic
0.790 GeneticVariation BEFREE We found that rs738409 in PNPLA3 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis (unadjusted OR= 2.25, P=1.7 x 10(-10); ancestry-adjusted OR=1.79, P=1.9 x 10(-5)). 19946271 2010
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. 20034933 2010
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. 20373368 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE In patients with NAFLD, adiponutrin rs738409 C-->G genotype, encoding for I148M, is associated with the severity of steatosis and fibrosis and the presence of nonalcoholic steatohepatitis. 20373368 2010
Nonalcoholic Steatohepatitis
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
0.100 GeneticVariation BEFREE In patients with NAFLD, adiponutrin rs738409 C-->G genotype, encoding for I148M, is associated with the severity of steatosis and fibrosis and the presence of nonalcoholic steatohepatitis. 20373368 2010
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
0.100 GeneticVariation BEFREE Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. 20373368 2010
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
0.100 GeneticVariation BEFREE Recently, the PNPLA3 gene I148M (rs738409) variant was demonstrated to be strongly associated with hepatic steatosis in obese adults. 20546964 2010
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Four hundred and seventy-five obese/overweight children and adolescents were genotyped for the I148M allele. 20546964 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Recently, the PNPLA3 gene I148M (rs738409) variant was demonstrated to be strongly associated with hepatic steatosis in obese adults. 20546964 2010
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE The G allele of rs738409 in PNPLA3 was associated with increased odds of histologic NAFLD (odds ratio [OR] = 3.26, 95% confidence intervals [CI] = 2.11-7.21; P = 3.6 x 10(-43)). 20648472 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE In a case only analysis of G allele of rs738409 in PNPLA3 was associated with a decreased risk of zone 3 centered steatosis (OR = 0.46, 95% CI = 0.36-0.58; P = 5.15 x 10(-11)). 20648472 2010
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE The PNPLA3 rs738409 polymorphism is associated with steatosis severity, hepatocellular ballooning, lobular inflammation, and perivenular fibrosis in pediatric NAFLD. 20648474 2010
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
0.800 GeneticVariation BEFREE Interestingly, the rs738</span>409 G allele was strongly associated with the severity of steatosis (P < 0.0001), the presence of NASH (P < 0.0001), hepatocellular ballooning (P < 0.0001), lobular inflammation (P < 0.0001), and the presence of fibrosis (P = 0.01) independently of confounders. 20648474 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 polymorphism is associated with steatosis severity, hepatocellular ballooning, lobular inflammation, and perivenular fibrosis in pediatric NAFLD. 20648474 2010
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
0.100 GeneticVariation BEFREE Recently, the rs738409 C>G adiponutrin/patatin-like phospholipase domain-containing 3 (PNPLA3) polymorphism, which encodes the I148M protein variant in the catalytic domain, has been associated with severe steatosis, NASH, and liver fibrosis in adults. 20648474 2010
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.900 GeneticVariation BEFREE After adjustment for age, sex, diabetes, and alcohol consumption, the minor allele of rs738409 C/G, a nonsynonymous coding SNP in the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene encoding an Ile148Met change, was associated with steatosis (P = 0.03), portal inflammation (P = 2.5 x 10(-4)), lobular inflammation (P = 0.005), Mallory-Denk bodies (P = 0.015), NAFLD activity score (NAS, P = 0.004), and fibrosis (P = 7.7 x 10(-6)). 20684021 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE In this large cohort of histologically proven NAFLD, we confirm the association of the rs738409 G allele with steatosis and describe its association with histological severity. 20684021 2010
Diabetes Mellitus, Non-Insulin-Dependent
0.790 GeneticVariation BEFREE This study confirms that in people with type 2 diabetes, LFC is related to rs738409 polymorphism. 20826584 2010
Metabolic Diseases
CUI: C0025517
Disease: Metabolic Diseases
0.040 GeneticVariation BEFREE The lack of a relationship with visceral obesity and the inverse correlation with CIMT suggest that fatty liver associated with the minor G allele of the PNPLA3 rs738409 polymorphism may not be linked to metabolic disorders. 20826584 2010