|
rs757075712
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Through clinical exome sequencing, we identified a homozygous missense variant (c.533C>T; p.Pro178Leu) in mitochondrial transcription factor A (TFAM) segregating in a consanguineous kindred of Colombian-Basque descent in which two siblings presented with IUGR, elevated transaminases, conjugated hyperbilirubinemia and hypoglycemia with progression to liver failure and death in early infancy.
|
27448789 |
2016 |
|
rs757075712
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs139194636
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs367956522
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs757600616
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs139041445
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Frequencies of different haplotypes of a genomic region with two overlapping insertion-deletion polymorphisms (indels; rs141023871 and rs139041445) were compared between patients and controls, as well as between patients with and without a severe form of disease (liver failure).
|
29893695 |
2019 |
|
rs738409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PNPLA3 rs738409 G allele carriers with genotype 1b HCV cirrhosis have lower viral load but develop liver failure at younger age.
|
31527889 |
2019 |
|
rs886037843
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous mutation located at Chr17: 62492543G>A in POLG2, resulting in R182W substitution in p55, was previously identified to cause mtDNA depletion and fatal hepatic liver failure.
|
30157269 |
2018 |
|
rs374661051
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient has the same mutation (c.547C>T; p.Arg183Trp) as the first case and presented with neonatal lactic acidosis, hypoglycemia and severe episodes of liver failure.
|
28275242 |
2017 |
|
rs1799983
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hence, the iNOS C150T polymorphism and the eNOS G894T polymorphism and high levels of iNOS and eNOS are associated with an increased risk of HEV-related acute hepatitis and liver failure.
|
24215170 |
2014 |
|
rs3087374
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous POLG1 p.Q1236H mutation was related to valproate-induced liver failure without mtDNA depletion, whereas patients homozygous for POLG1 p.W748S and p.E1143G mutations had mtDNA depletion.
|
25065347 |
2014 |
|
rs4986790
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The study included nine patients with cirrhosis and TLR4 D299G and/or T399I polymorphisms, and 10 wild-type patients matched for age, sex and degree of liver failure.
|
25516666 |
2014 |
|
rs4986791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The study included nine patients with cirrhosis and TLR4 D299G and/or T399I polymorphisms, and 10 wild-type patients matched for age, sex and degree of liver failure.
|
25516666 |
2014 |
|
rs2910164
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we explored the biological significance of a single-nucleotide polymorphism (rs2910164) within the miR-146a gene in the risk of acquiring ACLF-HBV.
|
23292505 |
2013 |
|
rs3820998
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic analysis revealed that the single-nucleotide polymorphism (SNP) rs3820998 was significantly associated with susceptibility to ACLF-HBV (dominant model, OR 0.643, 95% CI 0.428,0.964, p=0.033; additive model, OR 0.640, 95% CI 0.414,0.990, p=0.045), and LC (recessive model, OR 0.398, 95% CI 0.164,0.966, p=0.042; additive model, OR 0.379, 95% CI 0.155,0.928, p=0.034).
|
22225470 |
2012 |
|
rs1448427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among these SNPs, rs1448427 was also significantly associated with the severe progression to end-stage hepatic failure in the replication study of PBC patients who underwent liver transplantation (PBC cohort II).
|
21116829 |
2011 |
|
rs1012335
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The C allele at both loci was a susceptibility allele for ACLF-HBV and HCC, with the highest ORs reaching 1.653 (95% CI = 1.233, 2.216; p < 0.01 at rs1012335) in the ACLF-HBV group, and 1.659 (95% CI = 1.274, 2.159; p < 0.01 at rs1012335) in the HCC group.
|
20565290 |
2010 |
|
rs113994097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure.
|
20142534 |
2010 |
|
rs113994098
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure.
|
20142534 |
2010 |
|
rs2257167
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In comparison with the G/G genotype, the C/G and C/C genotypes at both single-nucleotide polymorphism (SNP) sites (rs1012335 and rs2257167) showed significant susceptibility to ACLF-HBV (the highest odds ratio [OR] reached 2.374; 95% CI = 1.488, 3.788; p < 0.001 for the C/G genotype at rs2257167), as well as HCC (OR = 2.475; 95% CI = 1.435, 4.426; p < 0.001 for the C/C genotype at rs1012335).
|
20565290 |
2010 |
|
rs267606959
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure.
|
20142534 |
2010 |