|
Hemochromatosis
|
|
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 |
|
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 |
|
Celiac Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
C282Y allele frequency was significantly increased in CD compared with controls (1.1% vs 0.2%, P = .001), whereas H63D and A736V allele frequencies were similar among patients and controls (P = .92 and .84, respectively).
|
29194702 |
2018 |
|
Necrotizing enterocolitis in fetus OR newborn
|
|
0.010 |
GeneticVariation
|
BEFREE |
Carriers of the rs855791 A-allele not receiving prophylactic probiotics had a higher risk of NEC surgery (OR 1.12, 95% CI 1.08-1.70, nominal P=0.002).
|
28820869 |
2018 |
|
Multiple Sclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, a heterozygous variation in the iron-related transmembrane protease serine 6 (TMPRSS6) gene, rs855791 was found, which could have impacted the patient's iron status following two successive blood donations and exposure to malaria preceding the MS diagnosis.
|
26746433 |
2016 |
|
Thalassemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In particular, the V736A TMPRSS6 polymorphism was associated to moderately lower hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin levels, and in thalassemia carriers with marked anemia and microcytosis.
|
25557470 |
2015 |
|
Iron deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
In 545 children below 5 years of age from rural southern Rwanda, we assessed the role of iron deficiency (ID) and of the TMPRSS6 736(V) (rs855791) allele, known to reduce iron status and haemoglobin (Hb) levels, in anaemia and Hb concentrations.
|
24175968 |
2014 |
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL.
|
25085015 |
2014 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.Ala736Val TMPRSS6 variant influences secondary hepatic iron accumulation in patients with NAFLD.
|
23144979 |
2012 |
|
Pica Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We sought to identify relationships of TMPRSS6 K253E, A736V, and Y739Y to iron, erythrocyte, and pica phenotypes in women with iron deficiency or depletion.
|
22265928 |
2012 |
|
Restless Legs Syndrome
|
|
0.020 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.020 |
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 |
|
Restless Legs Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
The effect of six single-nucleotide polymorphisms (SNPs) on ferritin levels in 14,126 blood donors were investigated in four genes: in Human Hemochromatosis Protein gene (HFE; rs1800562 and rs179945); in Transmembrane Protease gene, Serine 6 (TMPRSS6-regulating hepcidin; rs855791); in BTB domain containing protein gene (BTBD9-associated with restless legs syndrome; rs9357271); and in the Transferrin gene (TF; rs2280673 and rs1830084).
|
26597663 |
2016 |
|
Anemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
In particular, the V736A TMPRSS6 polymorphism was associated to moderately lower hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin levels, and in thalassemia carriers with marked anemia and microcytosis.
|
25557470 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.020 |
GeneticVariation
|
BEFREE |
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL.
|
25085015 |
2014 |
|
Hereditary hemochromatosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels in individuals positive for mutations in the HFE gene of hereditary hemochromatosis (p < 0.0001).
|
23433094 |
2013 |
|
Anemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
The A736V TMPRSS6 genotype influences hepcidin levels, erythropoiesis, and anemia management in CHD patients.
|
23433094 |
2013 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.020 |
GeneticVariation
|
BEFREE |
The newly identified iron-related SNP rs855791 in TPMRSS6 was nominally associated with a decreased risk of T2D in men but not in women.
|
22815867 |
2012 |
|
Iron Overload
|
|
0.020 |
GeneticVariation
|
BEFREE |
The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease.
|
23144979 |
2012 |
|
Iron Overload
|
|
0.020 |
GeneticVariation
|
BEFREE |
The 2 TMPRSS6 SNPs rs855791(V736A) and rs4820268(D521D) were both significantly associated with plasma ferritin (P ≤ 0.0058), hemoglobin (P ≤ 0.0013), iron overload risk (P ≤ 0.0068), and type 2 diabetes risk (P ≤ 0.0314).
|
22301935 |
2012 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.020 |
GeneticVariation
|
BEFREE |
The 2 TMPRSS6 SNPs rs855791(V736A) and rs4820268(D521D) were both significantly associated with plasma ferritin (P ≤ 0.0058), hemoglobin (P ≤ 0.0013), iron overload risk (P ≤ 0.0068), and type 2 diabetes risk (P ≤ 0.0314).
|
22301935 |
2012 |
|
Hereditary hemochromatosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The p.A736V TMPRSS6 polymorphism is likely a modifier of HH expression.
|
22885719 |
2012 |
|
Iron deficiency anemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
At follow-up, A736V was significantly increased in IDA persistent than in IDA not persistent (57.7% vs 35.2%, P < .0001).
|
29194702 |
2018 |
|
Iron deficiency anemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our study suggests homozygosity for TMPRSS6 rs855791 C genotype has a protective role against IDA in women at reproductive age, especially in those with menorrhagia.
|
24782651 |
2014 |
|
Iron deficiency anemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regulation pathways with the risk of iron-deficiency anemia (IDA), the following single nucleotide polymorphisms were genotyped in 2139 unrelated elderly Chinese women: rs3811647 (TF), rs7385804 (TFR2), rs235756 (BMP2), and rs855791(V736A) and rs4820268 (TMPRSS6, encoding matriptase-2).
|
22323359 |
2012 |