Epigenetic machine learning: utilizing DNA methylation patterns to predict spastic cerebral palsy.
BMC Bioinformatics
; 19(1): 225, 2018 06 21.
Article
em En
| MEDLINE
| ID: mdl-29925314
ABSTRACT
BACKGROUND:
Spastic cerebral palsy (CP) is a leading cause of physical disability. Most people with spastic CP are born with it, but early diagnosis is challenging, and no current biomarker platform readily identifies affected individuals. The aim of this study was to evaluate epigenetic profiles as biomarkers for spastic CP. A novel analysis pipeline was employed to assess DNA methylation patterns between peripheral blood cells of adolescent subjects (14.9 ± 0.3 years old) with spastic CP and controls at single CpG site resolution.RESULTS:
Significantly hypo- and hyper-methylated CpG sites associated with spastic CP were identified. Nonmetric multidimensional scaling fully discriminated the CP group from the controls. Machine learning based classification modeling indicated a high potential for a diagnostic model, and 252 sets of 40 or fewer CpG sites achieved near-perfect accuracy within our adolescent cohorts. A pilot test on significantly younger subjects (4.0 ± 1.5 years old) identified subjects with 73% accuracy.CONCLUSIONS:
Adolescent patients with spastic CP can be distinguished from a non-CP cohort based on DNA methylation patterns in peripheral blood cells. A clinical diagnostic test utilizing a panel of CpG sites may be possible using a simulated classification model. A pilot validation test on patients that were more than 10 years younger than the main adolescent cohorts indicated that distinguishing methylation patterns are present earlier in life. This study is the first to report an epigenetic assay capable of distinguishing a CP cohort.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Reconhecimento Automatizado de Padrão
/
Biomarcadores
/
Paralisia Cerebral
/
Análise de Sequência de DNA
/
Metilação de DNA
/
Epigenômica
/
Aprendizado de Máquina
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Adolescent
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
BMC Bioinformatics
Ano de publicação:
2018
Tipo de documento:
Article