Exploring Genome-wide DNA Methylation Profiles Altered in Kashin-Beck Disease Using Infinium Human Methylation 450 Bead Chips / 生物医学与环境科学(英文)
Biomedical and Environmental Sciences
; (12): 539-543, 2016.
Article
in En
| WPRIM
| ID: wpr-296570
Responsible library:
WPRO
ABSTRACT
To understand how differentially methylated genes (DMGs) might affect the pathogenesis of Kashin-Beck disease (KBD). Genome-wide methylation profiling of whole blood from 12 matched KBD and controls pairs was performed using a high-resolution Infinium 450 K methylation array. In total, 97 CpG sites were differentially methylated in KBD compared to the normal controls; of these sites, 36 sites were significantly hypermethylated (covering 22 genes) and 61 sites were significantly hypomethylated (covering 34 genes). Of these genes, 14 significant pathways were identified, the most significant P value pathway was type I diabetes mellitus pathway and pathways associated with autoimmune diseases and inflammatory diseases were included in this study. Subsequently, 4 CpG sites in HLA-DRB1 were validated using bisulfite sequencing polymerase chain reaction (BSP) in articular cartilage, and the results showed significant differences in the methylation status between KBD and controls, consistent with the results of the high-resolution array. These results suggested that differences in genome-wide DNA methylation exist between KBD and the controls, and the biological pathways support the autoimmune disease and inflammatory disease hypothesis of KBD.
Full text:
1
Database:
WPRIM
Main subject:
Genetic Variation
/
Case-Control Studies
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Cluster Analysis
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CpG Islands
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DNA Methylation
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Oligonucleotide Array Sequence Analysis
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Genome-Wide Association Study
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Kashin-Beck Disease
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Genetics
Type of study:
Observational_studies
/
Risk_factors_studies
Limits:
Adult
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Female
/
Humans
Language:
En
Journal:
Biomedical and Environmental Sciences
Year:
2016
Document type:
Article