DNA methylation abnormalities of imprinted genes in congenital heart disease: a pilot study.
Congenital heart disease
Germline differential methylation regions
Imprinted gene
Methylation modification
Journal
BMC medical genomics
ISSN: 1755-8794
Titre abrégé: BMC Med Genomics
Pays: England
ID NLM: 101319628
Informations de publication
Date de publication:
06 01 2021
06 01 2021
Historique:
received:
22
11
2020
accepted:
03
12
2020
entrez:
7
1
2021
pubmed:
8
1
2021
medline:
15
12
2021
Statut:
epublish
Résumé
Congenital heart disease (CHD) is resulted from the interaction of genetic aberration and environmental factors. Imprinted genes, which are regulated by epigenetic modifications, are essential for the normal embryonic development. However, the role of imprinted genes in the etiology of CHD remains unclear. After the samples were treated with bisulfate salt, imprinted genes methylation were measured by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. T test and One-way ANOVA were performed to evaluate the differences among groups. Odds ratios (ORs) were performed to evaluate the incidence risk of CHD in relation to methylation levels. We investigated the alterations of imprinted gene germline differential methylation regions (gDMRs) methylation in patients with CHD. Eighteen imprinted genes that are known to affect early embryonic development were selected and the methylation modification genes were detected by massarray in 27 CHD children and 28 healthy children. Altered gDMR methylation level of 8 imprinted genes was found, including 2 imprinted genes with hypermethylation of GRB10 and MEST and 6 genes with hypomethylation of PEG10, NAP1L5, INPP5F, PLAGL1, NESP and MEG3. Stratified analysis showed that the methylation degree of imprinted genes was different in different types of CHD. Risk analysis showed that 6 imprinted genes, except MEST and NAP1L5, within a specific methylation level range were the risk factors for CHD CONCLUSION: Altered methylation of imprinted genes is associated with CHD and varies in different types of CHD. Further experiments are warranted to identify the methylation characteristics of imprinted genes in different types of CHD and clarify the etiologies of imprinted genes in CHD.
Sections du résumé
BACKGROUND
Congenital heart disease (CHD) is resulted from the interaction of genetic aberration and environmental factors. Imprinted genes, which are regulated by epigenetic modifications, are essential for the normal embryonic development. However, the role of imprinted genes in the etiology of CHD remains unclear.
METHODS
After the samples were treated with bisulfate salt, imprinted genes methylation were measured by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. T test and One-way ANOVA were performed to evaluate the differences among groups. Odds ratios (ORs) were performed to evaluate the incidence risk of CHD in relation to methylation levels.
RESULTS
We investigated the alterations of imprinted gene germline differential methylation regions (gDMRs) methylation in patients with CHD. Eighteen imprinted genes that are known to affect early embryonic development were selected and the methylation modification genes were detected by massarray in 27 CHD children and 28 healthy children. Altered gDMR methylation level of 8 imprinted genes was found, including 2 imprinted genes with hypermethylation of GRB10 and MEST and 6 genes with hypomethylation of PEG10, NAP1L5, INPP5F, PLAGL1, NESP and MEG3. Stratified analysis showed that the methylation degree of imprinted genes was different in different types of CHD. Risk analysis showed that 6 imprinted genes, except MEST and NAP1L5, within a specific methylation level range were the risk factors for CHD CONCLUSION: Altered methylation of imprinted genes is associated with CHD and varies in different types of CHD. Further experiments are warranted to identify the methylation characteristics of imprinted genes in different types of CHD and clarify the etiologies of imprinted genes in CHD.
Identifiants
pubmed: 33407475
doi: 10.1186/s12920-020-00848-0
pii: 10.1186/s12920-020-00848-0
pmc: PMC7789576
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
4Subventions
Organisme : CAMS Innovation Fund for Medical Sciences
ID : 2016-I2M-1-008
Organisme : Medicine Research, BJ
ID : 2016-04
Organisme : the National Natural Science Fund of China
ID : 81670802
Organisme : National Key research and development program
ID : 2016YFC1000502
Organisme : Pediatric Department of Pediatrics Cooperative Development Center of Beijing Hospital Administration
ID : XTZD20180301
Organisme : Clinical Technology Innovation Project of Beijing Hospital Authority
ID : XMLX201712
Organisme : The Special Fund of the Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority
ID : XTZD20180301
Organisme : Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support
ID : XMLX201712
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