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Related Experiment Video

Updated: Mar 29, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Mitochondria-Related Pathogenic Genes in Paediatric Asthma: A Multi-Omics Mendelian Randomization Study.

Biyu Zhang¹, Yaqin Li¹, Bo Ding¹

¹Department of Paediatrics, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Journal of Cellular and Molecular Medicine

|March 28, 2026

Summary

This study reveals causal links between mitochondrial genes and childhood asthma using multi-omics data. Key genes like ALAS1 and TXNRD1 show potential as therapeutic targets for paediatric asthma.

Keywords:

Mendelian randomization colocalization analysis mitochondrial genes multi‐omics paediatric asthma

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Last Updated: Mar 29, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genetics and Genomics
Systems Biology
Respiratory Medicine

Background:

Mitochondrial dysfunction is linked to asthma, but causal genetic factors in children are not well understood.
Identifying specific mitochondrial-related genes involved in paediatric asthma is crucial for understanding disease mechanisms.

Purpose of the Study:

To investigate the causal roles of mitochondrial-related genes in paediatric asthma using a multi-omics approach.
To identify specific genes and regulatory pathways implicated in the pathogenesis of childhood asthma.

Main Methods:

A multi-omics Mendelian randomization study integrating genome-wide association study (GWAS) data with methylation, expression, and protein quantitative trait loci (mQTLs, eQTLs, pQTLs).
Utilized Summary-data-based Mendelian Randomization (SMR) and HEIDI testing, followed by colocalization analysis for causal inference.
Validated findings in independent cohorts and explored tissue specificity using the Genotype-Tissue Expression (GTEx) database; conducted functional enrichment and protein-protein interaction (PPI) network analyses.

Main Results:

Identified 80 methylation sites, 26 gene expressions, and three proteins significantly associated with paediatric asthma.
Confirmed causal evidence for 10 methylation sites (7 genes), the STX17 eQTL, and the UNG pQTL through colocalization analysis.
Multi-omics integration highlighted ALAS1 and TXNRD1, with DNA methylation potentially regulating their expression, converging on mitochondrial metabolic pathways. Seven hub genes were identified.

Conclusions:

Provides multi-omics evidence for a causal role of mitochondrial-related genes, specifically ALAS1 and TXNRD1, in paediatric asthma.
Suggests DNA methylation as a potential regulatory mechanism for ALAS1 and TXNRD1 expression in asthma pathogenesis.
Offers novel insights into childhood asthma mechanisms and identifies potential therapeutic targets.