|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Increased liver disease mortality was associated with PNPLA3 I148M (hazard ratio (HR), 2.9; 95% confidence interval (CI), 0.9-9.8) and 148M genotypes (HR, 18.2; 95% CI, 3.5-93.8), an intermediate (HR, 3.8; 95% CI, 1.3-10.7) or high (HR, 12.6; 95% CI, 4.3-36.3) NAFLD liver fat score, and a high NAFLD fibrosis score (HR, 12.2; 95% CI, 1.9-80.6) adjusted for risk factors.
|
31705824 |
2020 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We suggest PNPLA3 genotyping may help identify patients with NAFLD at higher risk of RTI.
|
31519069 |
2020 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated whether the common rs738409 variant in PNPLA3 gene associates with the occurrence of liver-related events and death in a large cohort of patients with NAFLD.
|
31419571 |
2020 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to elucidate whether PNPLA3 I148M is involved in NF-kB-related inflammation regulation in NAFLD.
|
31793207 |
2020 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Notably, we also found that an additive effect of the TM6SF2 E167K and PNPLA3 I148M variants in NAFLD.
|
31054977 |
2020 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PNPLA3 GG subjects had an increased risk (3.29-fold) of having NAFLD when compared to CC subjects (p=0.0044, 95% CI 1.504-7.225).
|
31054980 |
2020 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Studies that used common variants in PNPLA3, TM6SF2 and GCKR as instruments to investigate the relationship between NAFLD and coronary artery disease (CAD) have reported contrasting results.
|
31713012 |
2020 |
|
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 |
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 |
Studies have shown that two polymorphisms were associated with steatosis and progression of non-alcoholic fatty liver disease (NAFLD) in different populations: the Patatin-like Phospholipase Domain Containing 3 (PNPLA3) and Transmembrane 6 Superfamily Member 2 (TM6SF2).
|
31054980 |
2020 |
|
Nonalcoholic Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In patients with nonalcoholic steatohepatitis (NASH), PNPLA3 GG compared to CC was associated with higher AST levels [38.4±25.3 versus 36.7±40.1IU/L, p=0.0395)] and with the presence of liver fibrosis (≥F2 fibrosis, p=0.0272).
|
31054980 |
2020 |
|
Liver Cirrhosis, Alcoholic
|
0.500 |
Biomarker
|
disease |
BEFREE |
In line, sera from PNPLA3 148M-positive patients with alcoholic liver cirrhosis contained higher levels of interleukin-8 and CXCL1 than patients with wild-type PNPLA3.
|
31637480 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, genetic variants predisposing to NAFLD, such as the PNPLA3 I148M mutation, were not consistently associated with an increased risk of cardiovascular events.
|
30731283 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a sample of 230 overweight/obese children, 105 with NAFLD (hepatic fat fraction ≥5% by magnetic resonance imaging) and 125 without NAFLD, rs738409 in PNPLA3, rs58542926 in TM6SF2, rs1260326 in GCKR, and rs641738 in MBOAT7 were genotyped.
|
31505904 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Second, although the strongest genetic risk alleles for NAFLD (ie, the 148Met allele in PNPLA3 and the 167Lys allele in TM6SF2) are associated with increased liver fat content and progression to NASH and cirrhosis, these alleles are also unexpectedly associated with an apparent protection from cardiovascular disease.
|
30174213 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mendelian randomization using GWAS meta-analysis data was performed to estimate the causal effect of non-alcoholic fatty liver disease (PNPLA3, LYPLAL1, NCAN, GCKR) on eGFR (N<sub>max</sub> 118,460), microalbuminuria (N<sub>max</sub> 54,116), and impaired renal function (N<sub>max</sub> 118,147).
|
31668939 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PNPLA3 rs738409 [G] allele was a risk factor for NAFLD (GG vs CC, OR = 4.01, 95% CI 2.93-5.49; GC vs CC, OR = 1.88, 95% CI 1.58-2.24).
|
30762732 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The pathogenesis of non-alcoholic fatty liver disease (NAFLD) and hepatocellular carcinoma (HCC) has been associated with altered expression of liver-specific genes including pyruvate kinase liver and red blood cell (PKLR), patatin-like phospholipase domain containing 3 (PNPLA3) and proprotein convertase subtilisin/kexin type 9 (PCSK9).
|
30615941 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The PNPLA3 loss-of-function variant p.I148M is a strong genetic determinant of nonalcoholic fatty liver disease.
|
31454802 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The PNPLA3 I148M variant was significantly associated with the risk of NAFLD in an additive model (CG, OR = 2.092, 95% CI: 1.551-2.820, P = 0.000; GG, OR = 4.566, 95% CI: 3.141-6.638, P = 0.000, respectively).
|
30738435 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We measured comprehensive lipoprotein profiles by nuclear magnetic resonance among 170 serially recruited patients in an NAFLD registry, and determined their relationships with PNPLA3 and TM6SF2 genotypes.
|
28362682 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Children with obesity and PNPLA3 MM genotype show lower eGFR levels compared with other genotypes, with a major effect of this polymorphism in the presence of NAFLD.
|
31184438 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Three of the 14 SNPs were significantly associated with paediatric NAFLD after FDR adjustment, rs738409 (PNPLA3, P = 2.80 × 10<sup>-06</sup> ), rs1044498 (ENPP1, P = 0.0091) and rs780094 (GCKR, P = 0.0281).
|
30444569 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.
|
31311600 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among the eleven genotyped SNPs, the genetic variants in TM6SF2 rs58542926 (OR = 4.13, p = 0.002), GCKR rs1260326 (OR = 1.53, p = 0.003), PNPLA3 rs738409 (OR = 1.58, p = 0.004) and ELOVL2 rs2236212 (OR = 1.34, p = 0.047) were significantly associated with a higher risk of NAFLD.
|
31255630 |
2019 |