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Updated: Apr 1, 2026

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Epigenetics in Legg-Calvé-Perthes disease: A study of global DNA methylation
Pengfei Zheng1, Tao Yang2, Li Ju1
1Department of Paediatric Orthopaedics, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing, China.
Insights
Global DNA methylation, specifically LINE-1 promoter methylation, was significantly lower in children with Legg-Calvé-Perthes disease (LCPD), particularly in males. This suggests reduced DNA methylation may increase LCPD risk in boys.
Area of Science:
- Epigenetics
- Pediatric Orthopedics
- Molecular Biology
Background:
- Legg-Calvé-Perthes disease (LCPD) aetiopathogenesis is unclear.
- DNA methylation is a key epigenetic mechanism potentially involved in LCPD.
- Long interspersed nuclear element 1 (LINE-1) serves as a biomarker for global DNA methylation.
Purpose of the Study:
- To investigate global DNA methylation status in children with LCPD.
- To determine if DNA methylation levels differ between LCPD patients and controls.
- To explore potential links between DNA methylation and LCPD occurrence.
Main Methods:
- A case-control study involving children with LCPD and matched controls.
- Quantification of LINE-1 promoter methylation using methylation-specific polymerase chain reaction.
- Analysis of methylation levels in blood cells.
Main Results:
- Significantly lower LINE-1 promoter methylation was observed in LCPD patients compared to controls.
- Male LCPD patients exhibited significantly lower methylation than male controls.
- No significant differences in methylation were found between female LCPD patients and female controls.
Conclusions:
- Reduced global DNA methylation may be associated with an increased risk of LCPD in male children.
- Further research is needed to explore the diagnostic and therapeutic potential of global DNA methylation in LCPD.
- Epigenetic factors like DNA methylation warrant further investigation in LCPD aetiopathogenesis.
Objective:
To examine the global methylation status of DNA in blood cells of children with Legg-Calvé-Perthes disease (LCPD), since the aetiopathogenesis of LCPD remains unclear, and many factors closely associated with DNA methylation may be linked to the occurrence of LCPD.
Methods:
Children with LCPD and age-, sex- and body mass index-matched controls were evaluated. Methylation levels of the long interspersed nuclear element 1 (LINE-1), a biomarker of global DNA methylation, were quantified by methylation-specific polymerase chain reaction.
Results:
Of 82 children with LCPD (68 male/14 female) and 120 matched controls (98 male/22 female), methylation of the LINE-1 promoter was significantly lower in patients with LCPD compared with controls. Subgroup analyses showed that methylation of the LINE-1 promoter was significantly lower in male patients with LCPD compared with male controls. No significant between-group differences were observed in female participants.
Conclusions:
Reduced global DNA methylation may be associated with increased risk of LCPD in male children. Further research is required to understand whether detection of global DNA methylation may provide a basis for clinical diagnosis and early intervention of LCPD.
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