Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis.
Adult
Aged
Aged, 80 and over
Amyloid Neuropathies, Familial
/ diagnosis
Amyloid Precursor Protein Secretases
/ genetics
Aspartic Acid Endopeptidases
/ genetics
Case-Control Studies
CpG Islands
/ genetics
DNA Methylation
Epigenesis, Genetic
Epigenomics
/ methods
Female
Heterozygote
Humans
Italy
/ epidemiology
Male
Middle Aged
Mutation
Prealbumin
/ genetics
Protein Interaction Maps
/ genetics
Amyloidosis
Epigenetics
Methylation
Modifier gene
Val30Met mutation
hATTR
Journal
Clinical epigenetics
ISSN: 1868-7083
Titre abrégé: Clin Epigenetics
Pays: Germany
ID NLM: 101516977
Informations de publication
Date de publication:
17 11 2020
17 11 2020
Historique:
received:
07
10
2020
accepted:
03
11
2020
entrez:
18
11
2020
pubmed:
19
11
2020
medline:
27
10
2021
Statut:
epublish
Résumé
Hereditary transthyretin (TTR) amyloidosis (hATTR) is a rare life-threatening disorder caused by amyloidogenic coding mutations located in TTR gene. To understand the high phenotypic variability observed among carriers of TTR disease-causing mutations, we conducted an epigenome-wide association study (EWAS) assessing more than 700,000 methylation sites and testing epigenetic difference of TTR coding mutation carriers vs. non-carriers. We observed a significant methylation change at cg09097335 site located in Beta-secretase 2 (BACE2) gene (standardized regression coefficient = -0.60, p = 6.26 × 10
Identifiants
pubmed: 33203445
doi: 10.1186/s13148-020-00967-6
pii: 10.1186/s13148-020-00967-6
pmc: PMC7672937
doi:
Substances chimiques
Prealbumin
0
Amyloid Precursor Protein Secretases
EC 3.4.-
Aspartic Acid Endopeptidases
EC 3.4.23.-
BACE2 protein, human
EC 3.4.23.45
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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