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Updated: Oct 16, 2025

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
Janus kinase 2 (JAK2) methylation and obesity: A Mendelian randomization study
Runqi Tu1, Xiaotian Liu1, Xiaokang Dong1
1Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, Zhengzhou, Henan, PR China.
This study investigated the link between Janus kinase 2 (JAK2) methylation and obesity. Mendelian randomization analysis revealed a causal relationship between JAK2 methylation levels and obesity risk.
Area of Science:
- Epigenetics and Metabolism
- Human Genetics and Disease Etiology
Background:
- Janus kinase 2 (JAK2) is implicated in energy metabolism.
- The precise relationship between JAK2 methylation and obesity is not fully understood.
Purpose of the Study:
- To explore the potential causal relationship between JAK2 methylation levels and obesity.
- Utilizing Mendelian randomization analysis with single nucleotide polymorphism (SNP) instrumental variables.
Main Methods:
- Analysis of 1021 participants (511 cases, 510 controls) from the Henan Rural Cohort study.
- Genotyping of SNPs and measurement of DNA methylation levels.
- Logistic regression and Mendelian randomization analyses to assess associations and causality.
Main Results:
- Logistic regression identified specific CpG sites in JAK2 promoter and exon regions associated with obesity risk.
- Mendelian randomization analysis, using 5 SNPs as instrumental variables, demonstrated a causal association between JAK2 methylation and obesity.
Conclusions:
- The methylation degree of JAK2 exhibits a complex, region-dependent relationship with obesity.
- A causal link is established between JAK2 methylation levels and obesity.
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