|
rs1167115018
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (<i>KCNQ1</i>/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder.
|
29270100 |
2017 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to evaluate the OpenArray platform for genetic testing of blood donors and to assess the genotype frequencies of nucleotide-polymorphisms (SNPs) associated with venous thrombosis (G1691A and G20210A), hyperhomocysteinemia (C677T, A1298C), and hereditary hemochromatosis (C282Y, H63D and S65C) in blood donors from Sao Paulo, Brazil.
|
25955572 |
2015 |
|
rs200249435
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not.
|
26142323 |
2015 |
|
rs2111833
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL gene, rs1439816 in SLC40A1 gene, rs41295942 in TFR2 gene and rs2111833 in TMPRSS6 gene) with uncertain function in order to further evaluate their role in an independent cohort of 109 HH type 1 patients.
|
25976471 |
2015 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to evaluate the OpenArray platform for genetic testing of blood donors and to assess the genotype frequencies of nucleotide-polymorphisms (SNPs) associated with venous thrombosis (G1691A and G20210A), hyperhomocysteinemia (C677T, A1298C), and hereditary hemochromatosis (C282Y, H63D and S65C) in blood donors from Sao Paulo, Brazil.
|
25955572 |
2015 |
|
rs236918
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation.
|
24556216 |
2014 |
|
rs140080192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although E277K has a more deleterious effect than V295A, we propose that both mutations may play a role in the development of hereditary haemochromatosis.
|
22624560 |
2012 |
|
rs143496559
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.
|
21411349 |
2011 |
|
rs387907377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.
|
21411349 |
2011 |
|
rs765545512
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.
|
21411349 |
2011 |
|
rs777018511
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.
|
21411349 |
2011 |
|
rs779021719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.
|
21411349 |
2011 |
|
rs781959255
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.
|
21411349 |
2011 |
|
rs202068193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel p.V256I mutation could not be implicated in the molecular basis of the HH phenotype, although its role cannot be completely excluded in HH-phenotype development.
|
20843714 |
2010 |
|
rs4986790
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TLR4 Asp299Gly polymorphism modulates clinical expression in patients with hereditary hemochromatosis.
|
19809335 |
2010 |
|
rs771184127
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TLR4 Asp299Gly polymorphism modulates clinical expression in patients with hereditary hemochromatosis.
|
19809335 |
2010 |
|
rs144848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of allele H of the polymorphism N372H in patients was significantly higher than that of the controls (23.5% versus 17.6%, OR = 1.49, 95% CI 1.06-1.97, P = 0.02) and the subjects bearing rare allele H (NH + HH) significantly increased in patients compared with controls (41.7% versus 32.4%, 95% CI 1.03-2.15, P = 0.03).
|
16257105 |
2006 |
|
rs765166469
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two popular mutations in HFE, p.C282Y and p.H63D, have been discovered and found to associate with HH in different ethnic backgrounds. p.C282Y and p.H63D diagnosis is usually made by restriction enzyme analysis.
|
16672055 |
2006 |
|
rs80338879
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
|
16923517 |
2006 |
|
rs111033563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Combined, our results indicate that the Q283P mutation leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation.
|
15965644 |
2005 |
|
rs80338881
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A 21-year-old brother with a milder phenotype resembling classic adult-onset hereditary hemochromatosis carried only the Q317X serum transferrin receptor 2 homozygote mutation.
|
15685557 |
2005 |
|
rs1374259518
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified the c.208T>C (p.C70R) mutation in the HAMP gene in a patient affected by a severe form of hereditary hemochromatosis.
|
15024747 |
2004 |
|
rs4880
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.
|
15591282 |
2004 |
|
rs1397742363
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The new human HFE exon 7 region has been screened in non-C282Y HH patients in search for new putative mutations.
|
11358357 |
2001 |
|
rs35201683
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, the Y250X mutation could be the molecular defect responsible for hereditary hemochromatosis in subjects with atypical HFE genotypes.
|
11358390 |
2001 |