SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE Four patients had moderate to wd-HCC in the context of pre-existing liver disease with cirrhosis (progressive familial intrahepatic cholestasis type-2 = 2, alpha-1 antitrypsin deficiency = 1, Alagille syndrome = 1). 29968976 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE Alpha-1 Antitrypsin (α1AT) Deficiency is a genetic disease in which accumulation of α1AT mutant Z (α1ATZ) protein in the ER of hepatocytes causes chronic liver injury, liver fibrosis, and hepatocellular carcinoma. 30067827 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown. 28328804 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE Liver injury resulting from this gain-of-toxic function mechanism in which mutant AAT retained in the ER initiates a series of pathologic events, eventually culminating at liver cirrhosis and HCC. 28927525 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease CTD_human Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS. 21472284 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE In the classical form of alpha-1-antitrypsin (AT) deficiency, a mutant protein accumulates in the endoplasmic reticulum of liver cells, causing hepatic fibrosis and hepatocellular carcinoma by a gain-of-toxic function mechanism. 21683248 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE Our aim was to estimate the frequency of hemochromatosis gene (HFE) mutant alleles (C282Y and H63D) and alpha-1 antitrypsin S/Z variants among Egyptian HCV cirrhotic patients and in hepatocellular carcinoma patients and to evaluate their effects on disease progression. 21925577 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE Homozygous ZZ α-1-antitrypsin (a1AT) deficiency is a common genetic liver disease that causes liver injury and hepatocellular carcinoma (HCC). 20890217 2010
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma. 19961268 2009
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE Our objective was to estimate the prevalence of HFE and SERPINA1 (formerly known as alpha1-antitrypsin, AAT) mutations and assess their influence on hepatocellular carcinoma development. 18164971 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease LHGDN Our objective was to estimate the prevalence of HFE and SERPINA1 (formerly known as alpha1-antitrypsin, AAT) mutations and assess their influence on hepatocellular carcinoma development. 18164971 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE Studies have shown that AIAT heterozygosity can be considered a modifier for hepatitis C virus, end-stage liver disease, cirrhosis and hepatocellular carcinoma. 17519511 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE We determined the genotype of four proposed genetic risk factors for hepatocellular carcinoma [hereditary hemochromatosis (HFE 63 and 282), alpha(1)-antitrypsin deficiency (AAT 342) and cystic fibrosis (CFTR 508)] on formalin-fixed tissue samples, stored for up to 25 years, from 318 patients diagnosed with hepatocellular carcinoma and on plasma or serum samples from 31 of these patients. 15668502 2005
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE Homozygous, PIZZ alpha(1)-antitrypsin (alpha(1)-AT) deficiency is associated with chronic liver disease and hepatocellular carcinoma resulting from the toxic effects of mutant alpha(1)-anti-trypsin Z (alpha(1)-ATZ) protein retained in the endoplasmic reticulum (ER) of hepatocytes. 14684378 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease LHGDN The C-terminal 26-residue peptide of serpin A1 stimulates proliferation of breast and liver cancer cells: role of protein kinase C and CD47. 15498560 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE This issue may be particularly important for mutant secretory protein alpha(1)-antitrypsin (alpha(1)AT) Z because retention of this mutant protein in the ER can cause severe target organ injury, the chronic hepatitis/hepatocellular carcinoma associated with alpha(1)AT deficiency. 11052993 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE Previously, we developed a model for high incidence, endogenously generated hepatocellular carcinoma (HCC), the human alpha-1-antitrypsin (alpha1AT) Z gene transgenic mouse (Z#2). 9626974 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE None of the homozygous or heterozygous alpha 1 antitrypsin deficient patients had developed hepatocellular carcinoma compared with 3.4% (2 of 59) of the non-PiZ gene carriers (p = 1.0). 7615285 1995
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE The positive association of serum alpha-1-antitrypsin with tobacco smoking and the previously reported excessive elevation of serum alpha-1-antitrypsin in hepatitis B-negative tobacco-related cases of HCC suggest that alpha-1-antitrypsin is intimately related to the pathogenetic process linking tobacco smoking to HCC. 7686528 1993
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE We studied 82 patients with primary hepatobiliary cancer; 59 had hepatocellular carcinoma and 23 had bile duct carcinoma. alpha 1-Antitrypsin quantitation and phenotyping were performed in each patient using standard methods. 1312055 1992
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE Greater than 85% of the transport-impaired PiZ variant of human alpha 1-antitrypsin is retained within transfected mouse hepatoma cells and is subjected to intracellular degradation (Le, A., Graham, K., and Sifers, R.N.(1990) J. Biol.Chem.265, 14001-14007). 1530934 1992
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE In this study, we show that there is time-dependent and saturable internalization of alpha 1-AT-elastase and alpha 1-AT-trypsin complexes in human hepatoma HepG2 cells. 2211587 1990
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE A patient is described with micronodular cirrhosis, partial (heterozygous, MZ) deficiency of alpha-1-antitrypsin (AAT) and hepatocellular carcinoma. 3005953 1985
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 Biomarker disease BEFREE In addition, the apparent sizes of native factor I, transferrin, and alpha-1-antitrypsin secreted by the three hepatoma lines differed due to differences in postsynthetic processing. 6327681 1984
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 GeneticVariation disease BEFREE In order to investigate the possible association, we studied the phenotypic distribution of alpha-1-antitrypsin variants (Pi) in 124 cases of HCC. 6171495 1982