|
Fibrosis, Liver
|
|
0.030 |
GeneticVariation
|
BEFREE |
A single nucleotide polymorphism (G534E) in HABP2 leads to lower enzymatic activity and is associated with enhanced liver fibrosis in humans.
|
27462075 |
2016 |
|
Fibrosis, Liver
|
|
0.030 |
GeneticVariation
|
BEFREE |
A single nucleotide polymorphism (G534E, Marburg I, MI-SNP) in the gene encoding FSAP (HABP2) leads to lower enzymatic activity and is associated with enhanced liver fibrosis in humans.
|
22989567 |
2013 |
|
Fibrosis, Liver
|
|
0.030 |
GeneticVariation
|
BEFREE |
The G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP.
|
19105210 |
2009 |
|
familial non-medullary thyroid cancer
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the case of HABP2 rs7080536 and familial non-medullary thyroid cancer, these factors led to the conclusion of an association that most data and our re-analysis fail to support, although larger studies from diverse populations will be needed to definitively determine its role.
|
28884020 |
2017 |
|
Familial Nonmedullary Thyroid Cancer
|
|
0.020 |
GeneticVariation
|
BEFREE |
Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in a large kindred with nonsyndromic familial nonmedullary thyroid cancer (FNMTC).
|
28222214 |
2017 |
|
familial non-medullary thyroid cancer
|
|
0.020 |
GeneticVariation
|
BEFREE |
HABP2 G534E variation in familial non-medullary thyroid cancer: an Italian series.
|
27873212 |
2017 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
A heterozygous germline variant in the HABP2 gene c.1601G > A (p.Gly534Glu), which negatively impacts its tumor suppressive activity in vitro, has been described in 4-14% of kindreds of European-American ancestry with familial papillary thyroid carcinoma (fPTC).
|
28089742 |
2017 |
|
Familial Nonmedullary Thyroid Cancer
|
|
0.020 |
GeneticVariation
|
BEFREE |
HABP2 G534E Mutation in Familial Nonmedullary Thyroid Cancer.
|
26832773 |
2016 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
A recent study identified HABP2 as a tumor suppressor gene and identified a germline variant (G534E) in an extended FNMTC kindred.
|
27530615 |
2016 |
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.
|
28402931 |
2017 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Recently, the G534E variant in the HABP2 gene has been suggested as causative mutation for familial thyroid cancer, but other studies gave contradictory results.
|
27873212 |
2017 |
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Five of 170 healthy Brazilian individuals with no family history of BC or PTC and three of 50 sporadic PTC presented the p.G534E.
|
28402931 |
2017 |
|
Thyroid Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
As a control cohort, 190 healthy individuals without known thyroid disease were also studied for the presence of the G534E variant using DNA isolated from peripheral leucocytes.
|
26906432 |
2016 |
|
Liver Cirrhosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP.
|
19105210 |
2009 |
|
Cirrhosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP.
|
19105210 |
2009 |
|
Diabetes
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we demonstrate that a coding polymorphism (G534E) in the gene for FSAP is significantly associated with severe HCV-induced liver fibrosis (odds ratio, 2.59; P = 0.017), which is independent of age, gender, and presence of diabetes in multivariate analysis.
|
19105210 |
2009 |
|
Hepatitis C
|
|
0.010 |
GeneticVariation
|
BEFREE |
FSAP G534</span>E might be useful for risk stratification in patients with HCV infection.
|
19105210 |
2009 |
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we demonstrate that a coding polymorphism (G534E) in the gene for FSAP is significantly associated with severe HCV-induced liver fibrosis (odds ratio, 2.59; P = 0.017), which is independent of age, gender, and presence of diabetes in multivariate analysis.
|
19105210 |
2009 |
|
Deep Vein Thrombosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the association between the 1601G/A polymorphism, FSAP activity, FSAP antigen, Factor VIIa (FVIIa), prothrombin fragment 1+2 (F1+2), and C-reactive protein (CRP) in plasmas of 170 patients suspected for DVT.
|
18394684 |
2008 |
|
Atherothrombosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In clinical studies, the G534E single nucleotide polymorphism (Marburg I) of FSAP has been linked to late complications of atherothrombosis and is associated with a low proteolytic activity, particularly, towards pro-uPA.
|
18278176 |
2008 |
|
Cardiovascular Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
The G534E polymorphism (Marburg I [MI]) of factor VII-activating protease (FSAP) is associated with carotid stenosis and cardiovascular disease.
|
17145954 |
2006 |
|
Venous Thromboembolism
|
|
0.010 |
GeneticVariation
|
BEFREE |
Whether a single nucleotide polymorphism (1601 G > A) in the factor VII-activating protease gene (FSAP Marburg I) is a risk factor for venous thromboembolism (VTE) is unclear.
|
16543963 |
2006 |
|
Carotid Stenosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The G534E polymorphism (Marburg I [MI]) of factor VII-activating protease (FSAP) is associated with carotid stenosis and cardiovascular disease.
|
17145954 |
2006 |