|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ALT was significantly associated with variants at reported genetic loci for alcoholic liver disease (PNPLA3, rs738409, p = 0.0076; TM6SF2, rs10401969, p = 0.0076; HSD17B13, rs10433879, p = 0.0024).
|
30589442 |
2019 |
|
rs738409
|
|
|
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 |
|
rs738409
|
|
|
0.100 |
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 |
|
rs738409
|
|
|
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 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The nonsynonymous single-nucleotide polymorphism rs738409 C > G in the patatin-like phospholipase domain-containing 3 gene (PNPLA3, also known as adiponutrin), encoding the I148 M protein variant, has been identified as a novel genetic marker for hepatic steatosis and fibrosis in nonalcoholic fatty liver disease and alcoholic liver disease.
|
25543233 |
2015 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although to date only Adiponutrin (PNPLA3) rs738409 polymorphism (I148M) had been unequivocally proved to be associated with increased risk of alcoholic liver disease across different ethnicities.
|
26519102 |
2015 |
|
rs738409
|
|
|
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 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The G allele of the I148M variant was significantly overrepresented in patients with alcoholic liver disease (ALD, P < 0.001) and associated with hepatocellular carcinoma (HCC) development (odds ratio [OR] = 2.399; 95% confidence interval [CI]: 1.292-4.455; P = 0.008) while not affecting the other liver disease entities.
|
25273282 |
2014 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and non-alcoholic liver disease and we evaluated its impact on the disease course of PSC.
|
23505555 |
2013 |
|
rs738409
|
|
|
0.100 |
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 |
|
rs738409
|
|
|
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 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The PNPLA3 rs738409 C>G polymorphism has been found to be strongly associated with non-alcoholic fatty liver disease and with alcoholic liver disease.
|
21745286 |
2011 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently the common adiponutrin (PNPLA3) polymorphism p.I148M has been identified as a genetic determinant of severe forms of non-alcoholic fatty liver disease and alcoholic liver disease.
|
21893698 |
2011 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recent genome-wide association studies have identified the variant p.I148M of the adiponutrin gene PNPLA3 as a risk factor for developing severe forms of non-alcoholic and alcoholic liver diseases.
|
21168459 |
2011 |
|
rs1800562
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, it is currently unresolved whether mild-to-moderate hepatic iron deposition or heterozygosity for the C282Y mutation plays a role in human alcoholic liver disease or in nonalcoholic fatty liver disease or nonalcoholic steatohepatitis.
|
12957298 |
2003 |
|
rs1800562
|
|
|
0.040 |
GeneticVariation |
BEFREE |
C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease.
|
11469076 |
2001 |
|
rs1800562
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Seven of 31 patients (23%) with alcoholic liver disease were C282Y heterozygotes.
|
10462372 |
1999 |
|
rs1800562
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To study the role of hemochromatosis gene mutations on the pathogenesis of alcoholic liver disease (ALD), we have analyzed C282Y and H63D mutations on the chromosomes obtained from 95 Japanese alcoholics.
|
10235273 |
1999 |
|
rs58542926
|
|
|
0.020 |
GeneticVariation |
BEFREE |
SNPs in genes linked to HCC (DEPDC5, GRIK1, KIF1B, STAT4, MICA, DLC1, DDX18) or to liver damage (PNPLA3-rs738409, TM6SF2-rs58542926) in GWAS were genotyped in discovery cohorts including 1,020 HCC, 2,021 controls with chronic liver disease and 2,484 healthy individuals and replication was performed in prospective cohorts of cirrhotic patients with alcoholic liver disease (ALD, n = 249) and hepatitis C (n = 268).
|
30289982 |
2019 |
|
rs58542926
|
|
|
0.020 |
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 |
|
rs1799945
|
|
|
0.020 |
GeneticVariation |
BEFREE |
C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease.
|
11469076 |
2001 |
|
rs1799945
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To study the role of hemochromatosis gene mutations on the pathogenesis of alcoholic liver disease (ALD), we have analyzed C282Y and H63D mutations on the chromosomes obtained from 95 Japanese alcoholics.
|
10235273 |
1999 |
|
rs10401969
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ALT was significantly associated with variants at reported genetic loci for alcoholic liver disease (PNPLA3, rs738409, p = 0.0076; TM6SF2, rs10401969, p = 0.0076; HSD17B13, rs10433879, p = 0.0024).
|
30589442 |
2019 |
|
rs10433879
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ALT was significantly associated with variants at reported genetic loci for alcoholic liver disease (PNPLA3, rs738409, p = 0.0076; TM6SF2, rs10401969, p = 0.0076; HSD17B13, rs10433879, p = 0.0024).
|
30589442 |
2019 |
|
rs2281135
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three SNP-diagnosis pairs passed the phenome-wide significance threshold: rs9273349 and E06 (thyroiditis, p = 5.50x10-8); rs9273349 and E10 (type-1 diabetes, p = 2.60x10-7); and rs2281135 and K76 (non-alcoholic liver diseases, including NAFLD, p = 4.10x10-7).
|
30978214 |
2019 |