|
Steatohepatitis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We used real-time polymerase chain reaction (PCR) analysis to analyze the hepatic expression of PNPLA3 and lipid metabolism-related genes in 55 morbidly obese subjects with normal liver histology (NL, n = 18), simple steatosis (SS, n = 20), and non-alcoholic steatohepatitis (NASH, n = 17).
|
27128907 |
2016 |
|
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 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We studied the influence of rs738409 and other variants in the PNPLA3 region on steatosis and fibrosis assessed both in a cross-sectional and longitudinal manner.
|
21488075 |
2011 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We showed for the first time, to our knowledge, that carriers of the PNPLA3 148M allele with either fatty liver plus obesity or obesity alone have lower fasting circulating retinol concentrations.
|
26136587 |
2015 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conducted a meta-analysis to assess the association between patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 polymorphism and nonalcoholic fatty liver disease (NAFLD) and its subtypes simple steatosis(SS) and nonalcoholic steatohepatitis (NASH).
|
25791171 |
2015 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We assessed the familial correlation of PRO-C3 concentration, the shared gene effects between PRO-C3 concentration and liver steatosis and fibrosis, and the association between PRO-C3 concentration and genetic variants in the patatin-like phospholipase domain-containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2), membrane-bound O-acyltransferase domain-containing (MBOAT), and glucokinase regulator (CGKR) genes.
|
30859582 |
2019 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using a 443 patient training set, protein biomarker discovery was performed using the highly multiplexed SOMAscan<sup>®</sup> proteomic assay, a set of 19 clinical variables, and the steatosis predisposing PNPLA3 rs738409 single nucleotide polymorphism genotype status.
|
28266614 |
2017 |
|
Steatohepatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Translation of candidates from these studies into ALD has established a role for variants in genes including PNPLA3 and potentially TM6SF2 across the disease spectrum from steatosis, through cirrhosis to hepatocellular carcinoma.
|
26676812 |
2015 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to confirm the association of the transmembrane 6 superfamily member 2 (TM6SF2) E167K variant with non-alcoholic fatty liver disease (NAFLD) and the degree of steatosis, as well as the additive effect of body mass index (BMI) or the patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and TM6SF2 E167K variants in NAFLD.
|
31054977 |
2020 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, rs738409" genes_norm="80339">p.Ile148Met (rs738409) and p.Glu167Lys (rs58542926) on PNPLA3 and TM6SF2 gene, respectively, previously shown to be associated with nonalcoholic steatosis and fibrosis evolution.
|
28711549 |
2018 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis pooled four studies with 1135 cases of chronic hepatitis B (CHB) to evaluate the impact of PNPLA3 SNP on liver steatosis and also pooled five studies with 3713 cases of CHB to evaluate the impact of PNPLA3 SNP on cirrhosis.
|
29218813 |
2018 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that the liver expression of the PNPLA3 p.148M variant confers a genetic predisposition to liver graft steatosis along with nutritional status and diabetes.
|
29396131 |
2018 |
|
Steatohepatitis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The up-regulation of expression of hepatic genes related to liver steatosis (CPT1A, FASN, LEPR, RXRA, IGFBP1, PPARGC1A and SLC2A4) was detected in our rhesus model, as was the down-regulation of such genes (CYP7A1, HMGCR, GCK and PNPLA3) and the up-regulation of expression of hepatic genes related to liver cancer (E2F1, OPCML, FZD7, IGFBP1 and LEF1).
|
26442469 |
2015 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The protective effect of statins on steatohepatitis was stronger in subjects not carrying the I148M PNPLA3 risk variant (p=0.02 for interaction), as statins were negatively associated with steatohepatitis in patients negative (p<0.001), but not in those positive for the I148M variant (p=n.s.).
|
25980762 |
2015 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The presence of the TM6SF2 c.499A allele in the donor (p=0.014), the PNPLA3 c.444G allele in the donor (p<0.001), posttransplant BMI (p<0.001) and serum triglycerides (p=0.047) independently predicted increased liver fat content on multivariable analysis whereas noncirrhotic liver disease as an indication for liver transplantation was associated with lower risk of steatosis (p=0.003).
|
31356578 |
2020 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The presence of the minor PNPLA3 p.I148M risk allele increased the risk of developing NAFLD (OR = 3.29, P < 0.001) and was associated with higher steatosis, fibrosis, and serum CK18-M30 levels (all P < 0.05).
|
29483677 |
2018 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The presence of the PNPLA3 allle [M] was associated with increased hepatic triglyceride content (P = .03), steatosis detected by magnetic resonance imaging (P = 0.04), and decreased serum glucose concentrations (P = .04).
|
27576208 |
2016 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The objectives of this study were to investigate in a group of obese children the association among the 167K allele of TM6SF2 gene and ALT, cholesterol and triglycerides levels, and hepatic steatosis, and to evaluate the potential interaction between this variant and the I148M patatin like phospholipase 3 gene (PNPLA3) polymorphism on liver enzymes.
|
25893821 |
2016 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The negative impact of PNPLA3 148M/M on fibrosis progression was more marked in subjects at risk of altered hepatic lipid metabolism (those with grade 2-3 steatosis, genotype 3, and overweight; p<0.05).
|
25171251 |
2014 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The mechanism of how patatin-like phospholipase domain-containing protein 3 (PNPLA3) variant M148 is associated with increased risk of development of hepatic steatosis is still debated.
|
30171718 |
2019 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The genetic polymorphism with an rs738409" genes_norm="80339">isoleucine-to-methionine substitution at position 148 (rs738409 C>G) in the patatin-like phospholipase domain protein 3 (PNPLA3) gene confers risk of steatosis.
|
25964223 |
2015 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The genetic polymorphism I148M of the patatin-like phospholipase domain-containing 3 (PNPLA3) is associated with hepatic steatosis and its progression to steatohepatitis (NASH), fibrosis and cancer.
|
29116096 |
2017 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The G-allele of PNPLA3 rs738409 was associated with NAFLD (odds ratio [OR] 1.55, 95% confidence interval 1.13-2.11, P = 0.006) and moderate-to-severe steatosis (OR 3.77, 95% confidence interval 1.78-7.98, P = 0.001) adjusted for age, sex, and BMI standard deviation score.
|
25522307 |
2015 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The associations between the rs738409 PNPLA3 gene polymorphism and steatosis and advanced fibrosis were tested under a recessive inheritance model using logistic regression analysis, including age, gender, BMI, ethnicity/color, HOMA-IR, alcohol intake, HCV genotype 3, and the rs58542926 TM6SF2 gene polymorphism as covariates.
|
29258449 |
2017 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The association of PNPLA3 p.I148M with liver steatosis increased with the greater amount of abdominal fat, irrespective of BMI.
|
25986529 |
2015 |