|
rs2896019
|
|
G |
0.710 |
GeneticVariation |
GWASCAT |
Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.
|
29385134 |
2018 |
|
rs2896019
|
|
|
0.710 |
GeneticVariation |
BEFREE |
IL28B and PNPLA3 polymorphisms were associated with the presence of any steatosis (rs12979860, p = 1.87 × 10(-7); rs2896019, p = 7.56 × 10(-4)); clinically significant steatosis (rs12979860, p = 1.82 × 10(-3); rs2896019, p = 1.27 × 10(-4)); and steatosis severity (rs12979860, p = 2.05 × 10(-8); rs2896019, p = 2.62 × 10(-6)).
|
22543885 |
2012 |
|
rs1553403917
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
|
29079548 |
2018 |
|
rs17007417
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.
|
29385134 |
2018 |
|
rs2143571
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.
|
29385134 |
2018 |
|
rs267606959
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
|
20883824 |
2011 |
|
rs267606959
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
|
20142534 |
2010 |
|
rs1014959895
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1251713297
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1554888939
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs886041065
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs58542926
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The influence of recipient and donor TM6SF2 genotypes, PNPLA3 rs738409 genotypes and nongenetic factors on the steatosis grade assessed 6 - 30 months after transplantation was analyzed by ordinal logistic regression.
|
31356578 |
2020 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs58542926
|
|
|
0.100 |
GeneticVariation |
BEFREE |
PRO-C3 concentration appears to be linked to both fibrosis and steatosis and increased in carriers of the TM6SF2 rs58542926 risk allele.
|
30859582 |
2019 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Meta-analysis showed that PNPLA3 rs738409 polymorphism exerted strong influence not only on fatty liver but also on the histological injury.
|
30762732 |
2019 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There is an established correlation between the PNPLA3 rs738409 C > G single nucleotide polymorphism (SNP) and hepatic steatosis and fibrosis in hepatitis C virus (HCV) infected patients.
|
31642820 |
2019 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
PNPLA3 rs738409 minor allele c.444G represents a risk factor for liver steatosis and fibrosis progression also in chronic hepatitis C (HCV).
|
31527889 |
2019 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
General linear models were used to detect interactive effects between the PNPLA3 rs738409 genotype and 4 year changes in body weight on liver steatosis and glucose metabolism.
|
30673802 |
2019 |
|
rs738409
|
|
|
0.100 |
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 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Steatosis, ballooning, and lobular inflammation each were associated independently with significant fibrosis (P < .001); age, adiposity, fasting hyperglycemia, and the PNPLA3 I148M variant also were associated with fibrosis.
|
30708111 |
2019 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The severity of steatosis was critically associated with rs738409 (OR=3.25; 95% CI: 1.72-6.52, FDR-adjusted P = 0.0070).
|
30444569 |
2019 |
|
rs58542926
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, 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 |
|
rs58542926
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, 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 |
|
rs58542926
|
|
|
0.100 |
GeneticVariation |
BEFREE |
PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants were independent risk factors of hepatic steatosis and elevated ALT levels.
|
29314568 |
2018 |