|
rs1800562
|
HFE;LOC108783645
|
Virus Diseases
|
|
0.010 |
GeneticVariation |
BEFREE |
Prevalence and characteristics of anti-HCV positivity and chronic hepatitis C virus infection in HFE p.C282Y homozygotes.
|
31056361 |
2020 |
|
rs1799945
|
HFE;LOC108783645
|
Meconium ileus
|
|
0.010 |
GeneticVariation |
BEFREE |
H63D HFE substitutions were associated with a more rapid rate of decline in forced vital capacity (p = 0.01) and increased risk of MI or DIOS (p = 0.02).
|
30291871 |
2019 |
|
rs1799945
|
HFE;LOC108783645
|
Distal ileal obstruction syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
H63D HFE substitutions were associated with a more rapid rate of decline in forced vital capacity (p = 0.01) and increased risk of MI or DIOS (p = 0.02).
|
30291871 |
2019 |
|
rs1799945
|
HFE;LOC108783645
|
Restless Legs Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
The examined genes and single-nucleotide polymorphisms were 1) TMPRSS6, involved in regulation of hepcidin: rs855791; 2) HFE, associated with hemochromatosis: rs1800562 and rs1799945; 3) BTBD9, associated with restless leg syndrome: rs9357271; and 4) TF, encoding transferrin: rs2280673 and rs1830084.
|
30536387 |
2019 |
|
rs1800562
|
HFE;LOC108783645
|
Giant Cell Arteritis
|
|
0.010 |
GeneticVariation |
BEFREE |
C282Y homozygote men had increased likelihoods of reporting chronic pain (odds ratio [OR] 1.23: 95% confidence interval [CI] 1.05-1.45, p = .01) and diagnoses of polymyalgia rheumatica, compared to common "wild-type" genotype.
|
30657865 |
2019 |
|
rs1800562
|
HFE;LOC108783645
|
Sarcopenia
|
|
0.010 |
GeneticVariation |
BEFREE |
HFE C282Y homozygosity is associated with substantial excess sarcopenia, frailty, and chronic pain at older ages.
|
30657865 |
2019 |
|
rs1800562
|
HFE;LOC108783645
|
Back Pain
|
|
0.010 |
GeneticVariation |
BEFREE |
C282Y homozygote women (n = 312, 0.7%) aged 65-70 were more likely to be frail (OR 1.73: 1.05-2.84, p = .032) and have chronic knee, hip, and back pain.
|
30657865 |
2019 |
|
rs1800562
|
HFE;LOC108783645
|
Distal ileal obstruction syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
C282Y substitutions were associated with increased rates of CFRD (58% versus 33%, p = 0.026) and a trend towards increased MI or DIOS (38% versus 19%, p = 0.05).
|
30291871 |
2019 |
|
rs1800562
|
HFE;LOC108783645
|
Chronic pain
|
|
0.010 |
GeneticVariation |
BEFREE |
HFE C282Y homozygosity is associated with substantial excess sarcopenia, frailty, and chronic pain at older ages.
|
30657865 |
2019 |
|
rs1800562
|
HFE;LOC108783645
|
Polymyalgia Rheumatica
|
|
0.010 |
GeneticVariation |
BEFREE |
C282Y homozygote men had increased likelihoods of reporting chronic pain (odds ratio [OR] 1.23: 95% confidence interval [CI] 1.05-1.45, p = .01) and diagnoses of polymyalgia rheumatica, compared to common "wild-type" genotype.
|
30657865 |
2019 |
|
rs1800562
|
HFE;LOC108783645
|
Malnutrition
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic testing for HJV variants should thus be performed for all patients displaying a non-p.Cys282Tyr homozygous HFE hemochromatosis with hepcidin deficiency phenotype.
|
30389309 |
2019 |
|
rs1799945
|
HFE;LOC108783645
|
Hamartoma Syndrome, Multiple
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the role of HFE C282Y, H63D, and TMPRSS6 A736V variants in the pathogenesis of iron deficiency anemia (IDA) in celiac disease (CD) patients, at diagnosis and after 1 year of gluten-free diet (GFD).
|
29194702 |
2018 |
|
rs1799945
|
HFE;LOC108783645
|
Iron deficiency anemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the role of HFE C282Y, H63D, and TMPRSS6 A736V variants in the pathogenesis of iron deficiency anemia (IDA) in celiac disease (CD) patients, at diagnosis and after 1 year of gluten-free diet (GFD).
|
29194702 |
2018 |
|
rs1800562
|
HFE;LOC108783645
|
Childhood Hodgkin Lymphoma
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to determine the frequency of rs1050565, rs11077, and rs1800562 variants in South Indian healthy individuals and Hodgkin lymphoma cases.
|
29683071 |
2018 |
|
rs1800562
|
HFE;LOC108783645
|
Hodgkin Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to determine the frequency of rs1050565, rs11077, and rs1800562 variants in South Indian healthy individuals and Hodgkin lymphoma cases.
|
29683071 |
2018 |
|
rs1800562
|
HFE;LOC108783645
|
Adult Hodgkin Lymphoma
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to determine the frequency of rs1050565, rs11077, and rs1800562 variants in South Indian healthy individuals and Hodgkin lymphoma cases.
|
29683071 |
2018 |
|
rs1167115018
|
HFE;LOC108783645
|
Hereditary hemochromatosis
|
|
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 |
|
rs1167115018
|
HFE;LOC108783645
|
Hemochromatosis
|
|
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 |
|
rs1167115018
|
HFE;LOC108783645
|
HEMOCHROMATOSIS, TYPE 1
|
|
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 |
|
rs1167115018
|
HFE;LOC108783645
|
Long QT Syndrome
|
|
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 |
|
rs1167115018
|
HFE;LOC108783645
|
Jervell-Lange Nielsen Syndrome
|
|
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 |
|
rs1799945
|
HFE;LOC108783645
|
Glioblastoma Multiforme
|
|
0.010 |
GeneticVariation |
BEFREE |
The Kaplan-Meier survival curve for the 264 GBM samples revealed no difference between wild type (WT) HFE and H63D, and WT HFE and C282Y GBM patients.
|
28358914 |
2017 |
|
rs1799945
|
HFE;LOC108783645
|
Iron Metabolism Disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron absorption.HFE gene mutations C282Y and H63D are responsible for the majority of hereditary hemochromatosis cases.
|
27561698 |
2017 |
|
rs1799945
|
HFE;LOC108783645
|
Chronic liver disease
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis.
|
28617828 |
2017 |
|
rs1800562
|
HFE;LOC108783645
|
Glioblastoma Multiforme
|
|
0.010 |
GeneticVariation |
BEFREE |
The Kaplan-Meier survival curve for the 264 GBM samples revealed no difference between wild type (WT) HFE and H63D, and WT HFE and C282Y GBM patients.
|
28358914 |
2017 |