Saliva-derived DNA is suitable for the detection of clonal haematopoiesis of indeterminate potential.
Humans
Saliva
/ metabolism
Clonal Hematopoiesis
/ genetics
DNA Methyltransferase 3A
DNA-Binding Proteins
/ genetics
Female
Male
DNA
/ genetics
Dioxygenases
/ genetics
Proto-Oncogene Proteins
/ genetics
Tumor Suppressor Protein p53
/ genetics
DNA (Cytosine-5-)-Methyltransferases
/ genetics
Adult
Middle Aged
Aged
Alleles
Blood
CHIP
Clonal haematopoiesis
Next generation sequencing
Saliva
Somatic mutations
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
14 08 2024
14 08 2024
Historique:
received:
21
05
2024
accepted:
05
08
2024
medline:
15
8
2024
pubmed:
15
8
2024
entrez:
14
8
2024
Statut:
epublish
Résumé
Clonal haematopoiesis of indeterminate potential (CHIP) has been associated with many adverse health outcomes. However, further research is required to understand the critical genes and pathways relevant to CHIP subtypes, evaluate how CHIP clones evolve with time, and further advance functional characterisation and therapeutic studies. Large epidemiological studies are well placed to address these questions but often collect saliva rather than blood from participants. Paired saliva- and blood-derived DNA samples from 94 study participants were sequenced using a targeted CHIP-gene panel. The ten genes most frequently identified to carry CHIP-associated variants were analysed. Fourteen unique variants associated with CHIP, ten in DNMT3A, two in TP53 and two in TET2, were identified with a variant allele fraction (VAF) between 0.02 and 0.2 and variant depth ≥ 5 reads. Eleven of these CHIP-associated variants were detected in both the blood- and saliva-derived DNA sample. Three variants were detected in blood with a VAF > 0.02 but fell below this threshold in the paired saliva sample (VAF 0.008-0.013). Saliva-derived DNA is suitable for detecting CHIP-associated variants. Saliva can offer a cost-effective biospecimen that could both advance CHIP research and facilitate clinical translation into settings such as risk prediction, precision prevention, and treatment monitoring.
Identifiants
pubmed: 39143154
doi: 10.1038/s41598-024-69398-0
pii: 10.1038/s41598-024-69398-0
doi:
Substances chimiques
DNMT3A protein, human
0
DNA Methyltransferase 3A
EC 2.1.1.37
DNA-Binding Proteins
0
DNA
9007-49-2
TET2 protein, human
EC 1.13.11.-
Dioxygenases
EC 1.13.11.-
Proto-Oncogene Proteins
0
Tumor Suppressor Protein p53
0
TP53 protein, human
0
DNA (Cytosine-5-)-Methyltransferases
EC 2.1.1.37
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
18917Subventions
Organisme : Australian Medical Research Future Fund
ID : GNT2016221
Organisme : Australian Medical Research Future Fund
ID : GNT2016221
Organisme : National Health Medical Research Council
ID : GNT2017325
Informations de copyright
© 2024. The Author(s).
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