Sökning: L773:1479 7364
> (2020-2024) >
LINE-1 global DNA m...
LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL)
-
- Tisato, Veronica (författare)
- Department of Translational Medicine, University of Ferrara, Ferrara, Italy; LTTA Centre, University of Ferrara, Ferrara, Italy; University Strategic Centre for Studies on Gender Medicine, University of Ferrara, Ferrara, Italy
-
- Castiglione, Alessandro, 1976- (författare)
- Örebro universitet,Institutionen för medicinska vetenskaper,Region Örebro län,Audiology Department
-
- Ciorba, Andrea (författare)
- Department of Neurosciences, University Hospital of Ferrara, Ferrara, Italy
-
visa fler...
-
- Aimoni, Claudia (författare)
- Department of Neurosciences, University Hospital of Ferrara, Ferrara, Italy
-
- Silva, Juliana Araujo (författare)
- Department of Translational Medicine, University of Ferrara, Ferrara, Italy
-
- Gallo, Ines (författare)
- Department of Translational Medicine, University of Ferrara, Ferrara, Italy
-
- D’Aversa, Elisabetta (författare)
- Department of Translational Medicine, University of Ferrara, Ferrara, Italy
-
- Salvatori, Francesca (författare)
- Department of Translational Medicine, University of Ferrara, Ferrara, Italy
-
- Bianchini, Chiara (författare)
- Department of Neurosciences, University Hospital of Ferrara, Ferrara, Italy
-
- Pelucchi, Stefano (författare)
- Department of Neurosciences, University Hospital of Ferrara, Ferrara, Italy
-
- Secchiero, Paola (författare)
- Department of Translational Medicine, University of Ferrara, Ferrara, Italy
-
- Zauli, Giorgio (författare)
- Department of Environmental and Prevention Sciences, University of Ferrara, Ferrara, Italy
-
- Singh, Ajay Vikram (författare)
- Department of Chemical and Product Safety, German Federal Institute for Risk Assessment (BfR), Berlin, Germany
-
- Gemmati, Donato (författare)
- Department of Translational Medicine, University of Ferrara, Ferrara, Italy; University Strategic Centre for Studies on Gender Medicine, University of Ferrara, Ferrara, Italy; Centre Haemostasis and Thrombosis, University of Ferrara, Ferrara, Italy
-
visa färre...
-
(creator_code:org_t)
- BioMed Central (BMC), 2023
- 2023
- Engelska.
-
Ingår i: Human Genomics. - : BioMed Central (BMC). - 1473-9542 .- 1479-7364. ; 17:1
- Relaterad länk:
-
https://doi.org/10.1...
-
visa fler...
-
https://oru.diva-por... (primary) (Raw object)
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Background: Sudden sensorineural hearing loss (SSNHL) is an abrupt loss of hearing, still idiopathic in most of cases. Several mechanisms have been proposed including genetic and epigenetic interrelationships also considering iron homeostasis genes, ferroptosis and cellular stressors such as iron excess and dysfunctional mitochondrial superoxide dismutase activity.Results: We investigated 206 SSNHL patients and 420 healthy controls for the following genetic variants in the iron pathway: SLC40A1 - 8CG (ferroportin; FPN1), HAMP - 582AG (hepcidin; HEPC), HFE C282Y and H63D (homeostatic iron regulator), TF P570S (transferrin) and SOD2 A16V in the mitochondrial superoxide dismutase-2 gene. Among patients, SLC40A1 - 8GG homozygotes were overrepresented (8.25% vs 2.62%; P = 0.0015) as well SOD2 16VV genotype (32.0% vs 24.3%; P = 0.037) accounting for increased SSNHL risk (OR = 3.34; 1.54-7.29 and OR = 1.47; 1.02-2.12, respectively). Moreover, LINE-1 methylation was inversely related (r2 = 0.042; P = 0.001) with hearing loss score assessed as pure tone average (PTA, dB HL), and the trend was maintained after SLC40A1 - 8CG and HAMP - 582AG genotype stratification (Delta SLC40A1 = + 8.99 dB HL and Delta HAMP = - 6.07 dB HL). In multivariate investigations, principal component analysis (PCA) yielded PC1 (PTA, age, LINE-1, HAMP, SLC40A1) and PC2 (sex, HFEC282Y, SOD2, HAMP) among the five generated PCs, and logistic regression analysis ascribed to PC1 an inverse association with moderate/severe/profound HL (OR = 0.60; 0.42-0.86; P = 0.0006) and with severe/profound HL (OR = 0.52; 0.35-0.76; P = 0.001).Conclusion: Recognizing genetic and epigenetic biomarkers and their mutual interactions in SSNHL is of great value and can help pharmacy science to design by pharmacogenomic data classical or advanced molecules, such as epidrugs, to target new pathways for a better prognosis and treatment of SSNHL.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Epigenomics
- Epigenetics
- Epidrugs
- Iron
- LINE-1 methylation
- Oxidative stress
- Pharmacogenomics
- Pharmacogenetics
- SSNHL
- Genetik
- Genetics
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Tisato, Veronica
-
Castiglione, Ale ...
-
Ciorba, Andrea
-
Aimoni, Claudia
-
Silva, Juliana A ...
-
Gallo, Ines
-
visa fler...
-
D’Aversa, Elisab ...
-
Salvatori, Franc ...
-
Bianchini, Chiar ...
-
Pelucchi, Stefan ...
-
Secchiero, Paola
-
Zauli, Giorgio
-
Singh, Ajay Vikr ...
-
Gemmati, Donato
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Medicinska och f ...
-
och Medicinsk geneti ...
- Artiklar i publikationen
-
Human Genomics
- Av lärosätet
-
Örebro universitet