|
22q13.3 Deletion Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.
|
30308089 |
2018 |
|
Adrenoleukodystrophy
|
|
0.090 |
GeneticVariation
|
BEFREE |
Genetic testing of the I148M genotype in ALD patients awaiting liver transplantation might be beneficial for these patients.
|
25273282 |
2014 |
|
Adrenoleukodystrophy
|
|
0.090 |
GeneticVariation
|
BEFREE |
In European Caucasians, the rs738409 variant is associated with increased risk of ALD, liver damage, and cirrhosis.
|
21334404 |
2011 |
|
Adrenoleukodystrophy
|
|
0.090 |
GeneticVariation
|
BEFREE |
We performed a systematic review of previous studies on the relationship between rs738409 of PNPLA3 and ALD and meta-analysis was conducted in a random-effects model.
|
25060292 |
2014 |
|
Adrenoleukodystrophy
|
|
0.090 |
GeneticVariation
|
BEFREE |
The finding of an additive interaction among rs738409, obesity, and alcohol towards NAS may be useful in targeting preventative care to patients at highest risk for ALD.
|
23032985 |
2012 |
|
Adrenoleukodystrophy
|
|
0.090 |
GeneticVariation
|
BEFREE |
PNPLA3 genetic polymorphism (rs738409 C>G) is associated with increased risk for the entire spectrum of ALD among drinkers including ALI, AC, and HCC.
|
25964223 |
2015 |
|
Adrenoleukodystrophy
|
|
0.090 |
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 |
|
Adrenoleukodystrophy
|
|
0.090 |
GeneticVariation
|
BEFREE |
The single nucleotide polymorphism (SNP) rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is associated with hepatic fat accumulation and disease progression in patients with non-alcoholic fatty liver disease and alcoholic liver disease (ALD).
|
22869157 |
2013 |
|
Adrenoleukodystrophy
|
|
0.090 |
GeneticVariation
|
BEFREE |
Our case-control study confirmed that PNPLA3 rs738409 SNP is associated with ALD.
|
29474507 |
2018 |
|
Adrenoleukodystrophy
|
|
0.090 |
GeneticVariation
|
BEFREE |
In a Han Chinese population, the present study confirmed that PNPLA3 polymorphism rs738409 was more likely to influence the susceptibility to ALD.
|
30132178 |
2018 |
|
Adult Hepatocellular Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emerged as a major genetic determinant of hepatic steatosis and nonalcoholic steatohepatitis as well as its pathobiological sequelae fibrosis, cirrhosis, and hepatocellular cancer.
|
24222094 |
2013 |
|
Adult Liver Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
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.
|
22087248 |
2011 |
|
Adult Liver Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
These patients were followed-up and screened for the risk of HCC, and the influence of rs738409 on the occurrence of liver cancer was assessed using the Kaplan-Meier method, then according to the multivariate Cox model.
|
23069476 |
2013 |
|
Adult Liver Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
Variation at rs738409 was not associated with significant changes in resolution rate of hepatitis C. By contrast, M/M genotype, present at higher frequencies (22.8%) in HCC patients than in patients with chronic hepatitis C (8.5%, P = 0.004) or control individuals (9.1%, P = 0.005) was associated with a 3-fold increase of liver cancer risk.
|
24269995 |
2014 |
|
Adult Liver Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with an increased risk of chronic liver disease and progression towards liver cancer- were significantly more frequent among samples exhibiting maternal and paternal Native American haplogroups (63.7 % and 64.6 %), intermediate among admixed samples (45.1 % and 44.9 %; p = 0.03) and the lowest for Non-native American ancestry (30.1 % and 29.6 %; p = 0.001 and p = 0.0008).
|
26219465 |
2015 |
|
Alanine aminotransferase measurement
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.
|
28090653 |
2017 |
|
Alanine aminotransferase measurement
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
|
22001757 |
2011 |
|
Alanine aminotransferase measurement
|
|
0.800 |
GeneticVariation
|
GWASDB |
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
|
22001757 |
2011 |
|
Alanine aminotransferase measurement
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
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 |
|
Alcoholic Intoxication, Chronic
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) genetic variant has been associated with hepatocellular carcinoma (HCC) in individuals with chronic alcohol abuse or hepatic viral infection.
|
22704398 |
2012 |
|
Alcoholic Liver Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Several studies have reported an association between alcoholic liver cirrhosis (ALC) or other forms of alcoholic liver disease (ALD) and the genetic variant rs738409 (C>G) in adiponutrin/patatin-like phospholipase domain-containing 3 gene (PNPLA3).
|
25060292 |
2014 |
|
Alcoholic Liver Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
In addition, the PNPLA3 single-nucleotide polymorphism rs738409 (M148I) was reported to be associated with advanced alcoholic liver disease in alcohol-dependent individuals of Mestizo descent.
|
21254164 |
2011 |
|
Alcoholic Liver Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
ADPN I148M polymorphism has been consistently reported to play a role in liver-associated diseases, such as alcoholic liver disease, chronic hepatitis C, and liver fat and fibrosis in nonalcoholic fatty liver disease.
|
26632699 |
2015 |
|
Alcoholic Liver Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Single-nucleotide rs738409 polymorphisms in the PNPLA3 gene are strongly associated with alcoholic liver disease in Han Chinese males.
|
30132178 |
2018 |