|
Malignant neoplasm of mouth
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Thus in the current study, we assessed the association of thirteen SNPs in seven transcription factor genes along with HBB (a control SNP) to identify high-risk genotypes associated with increased oral cancer risk in an Indian cohort of tobacco habitués.
|
31452252 |
2020 |
|
Lip and Oral Cavity Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Thus in the current study, we assessed the association of thirteen SNPs in seven transcription factor genes along with HBB (a control SNP) to identify high-risk genotypes associated with increased oral cancer risk in an Indian cohort of tobacco habitués.
|
31452252 |
2020 |
|
Glaucoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The expression of lipocalin 2 (LCN2), monoamine oxidase A (MAOA), hemoglobin subunit β (HBB), paired box 6 (PAX6), fibronectin (FN1) and cAMP responsive element binding protein 1 (CREB1) were demonstrated to be involved in the pathogenesis of glaucoma.
|
31115504 |
2019 |
|
Hyperglycemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of hyperglycemia (prediabetes and diabetes) defined using fasting glucose or oral glucose tolerance test 2-h glucose was similar between carriers of <i>HBB-</i>rs334 or <i>G6PD</i>-rs1050828 HbA<sub>1c</sub>-lowering alleles and noncarriers, whereas the prevalence of hyperglycemia defined using HbA<sub>1c</sub> was significantly lower in carriers than in noncarriers (12.2% vs. 28.4%, <i>P</i> < 0.001).
|
31213470 |
2019 |
|
Pseudoxanthoma Elasticum
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Overlap has been reported between the inherited PXE phenotype associated with ENPP1, ABCC6 or NT5E mutations and acquired PXE clinical manifestations associated with haemoglobinopathies induced by HBB mutations.
|
31646622 |
2019 |
|
Congenital Methemoglobinemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Hereditary methemoglobinemia caused by Hb M-Hyde Park (Hb M-Akita) (HBB:c.277C > T; p.His93Tyr).
|
31267164 |
2019 |
|
Sickle Beta 0 Thalassemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These tests however may not easily differentiate Sβ0 thalassemia from SS or identify other hemoglobin variants, and in this case, hemoglobin (HBB) gene sequencing may be necessary.
|
31830127 |
2019 |
|
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Secondary CE can be a consequence of tissue hypoxia, being caused by congenital defects such as hemoglobin variants with increased oxygen affinity, due to mutations in the α- or β-globin genes (HBB, HBA2, HBA1), or due to mutations in the BPGM gene.
|
29741264 |
2018 |
|
Drug abuse
|
0.010 |
AlteredExpression
|
group |
BEFREE |
After controlling for covariates, minority status significantly predicted higher levels of glycated hemoglobin (β = 0.23; P = 0.01), and physical abuse had a marginally significant effect (β = 0.23; P = 0.06).
|
29661027 |
2018 |
|
Congenital defects
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Secondary CE can be a consequence of tissue hypoxia, being caused by congenital defects such as hemoglobin variants with increased oxygen affinity, due to mutations in the α- or β-globin genes (HBB, HBA2, HBA1), or due to mutations in the BPGM gene.
|
29741264 |
2018 |
|
Intravascular hemolysis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a monogenetic disorder caused by a mutation in the β-globin gene HBB leading to polymerization of red blood cells causing damage to cell membranes, increasing its rigidity and intravascular hemolysis.
|
29614633 |
2018 |
|
Neurodegenerative Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Our data suggest that EPO mediated regulation of Hbb supports neuronal energetics and may provide neuroprotection in MS and other neurodegenerative diseases where a dysfunction of mitochondria contributes to disease.
|
29498007 |
2018 |
|
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Of the 96 β-TT samples, sickle cell trait (SCT) samples (n = 58) were excluded, while the remaining (38 β-TT) were included in the detailed analysis: seven subjects with the HBB mutation had normal HbA<sub>2</sub> (<3%), and three were borderline (3.1-3.9%).
|
29383950 |
2018 |
|
Behcet Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genetic origin of Behçet's disease population in Denizli, Turkey; population genetics data analysis; historical demography and geographical perspectives based on β-globin gene cluster haplotype variation.
|
28031553 |
2017 |
|
Crohn Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
In linear regression models, vitamin D insufficiency was associated with increased hepcidin levels (β [SE] = 0.6 [0.2], P = 0.01) and reduced hemoglobin (β [SE] = -0.9 [0.5], P = 0.046), controlling for age, sex, race, insurance status, body mass index for age, inflammation, disease diagnosis (ulcerative colitis versus Crohn's disease), and disease duration, compared with 25(OH)D ≥30 ng/mL.
|
28700535 |
2017 |
|
Thrombocytopenia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Hemoglobin Hornchurch [β43 (CD2) Glu > Lys; HBB: c.130G > A] in a Chinese boy complicated with thrombocytopenia: A case report and literature review.
|
29382003 |
2017 |
|
Anemia, Diamond-Blackfan
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In our present study, we assessed the efficacy of a clinically relevant promoter, the human elongation factor 1α short promoter, with or without the locus control region of the β-globin gene for treatment of RPS19-deficient Diamond-Blackfan anemia.
|
28434866 |
2017 |
|
Neuroblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We also found that Hbb is present in the nucleus and that expression of Hbb in SH-SY5Y neuroblastoma cells increased trimethylation of histone H3 on lysine 4 (H3K4me3), a histone mark that regulates cellular metabolism.
|
26809286 |
2016 |
|
Central neuroblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We also found that Hbb is present in the nucleus and that expression of Hbb in SH-SY5Y neuroblastoma cells increased trimethylation of histone H3 on lysine 4 (H3K4me3), a histone mark that regulates cellular metabolism.
|
26809286 |
2016 |
|
Childhood Neuroblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We also found that Hbb is present in the nucleus and that expression of Hbb in SH-SY5Y neuroblastoma cells increased trimethylation of histone H3 on lysine 4 (H3K4me3), a histone mark that regulates cellular metabolism.
|
26809286 |
2016 |
|
Parasitemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Current knowledge of the genetic basis of parasitemia levels and IgG levels is reviewed through key examples including the hemoglobinopathies, showing that the protective effect of HBB variants on malaria clinical phenotypes may partially be mediated through parasitemia and cytophilic IgG levels.
|
25887595 |
2015 |
|
Progressive Neoplastic Disease
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Viral load ranged from 0.006 to 943 viral DNA copies/β-globin gene and was highest in patients with progressive disease.
|
25936870 |
2015 |
|
Progressive cGVHD
|
0.010 |
Biomarker
|
disease |
BEFREE |
Viral load ranged from 0.006 to 943 viral DNA copies/β-globin gene and was highest in patients with progressive disease.
|
25936870 |
2015 |
|
Renal carnitine transport defect
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
SCD-corrected hiPSC lines showed gene conversion of the mutated βS to the wild-type βA in one of the HBB alleles, while the other allele remained a mutant phenotype.
|
25245091 |
2014 |
|
Papillary thyroid carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Amplification of the β-globin gene using DNA from the SNU 790 cell line and papillary thyroid carcinoma (PTC) cells extracted with Method A demonstrated the strongest band.
|
23691506 |
2013 |