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Updated: Jun 16, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Causal Effects Between Genetically Determined Human Serum Metabolite Levels on the Risk of Idiopathic Pulmonary
Yu Shi1, Shuang Chen2, Zhaokai Zhou3
1Department of Respiration, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Background:
The incidence of idiopathic pulmonary fibrosis (IPF) is increasing every year; however, the potential biological mechanisms have not been completely clarified. The objective of this study is to reveal the etiologic effects of circulating metabolites on IPF.
Methods:
This research evaluated the causal relationship between serum metabolites and IPF utilizing two-sample Mendelian randomization (MR) analysis. IVW served as the main method of analysis; concurrently, MR-Egger, weighted median, and MR-PRESSO acted as supplementary analyses. Sensitivity analyses were performed with Cochran's Q test, MR-Egger's intercept test, and leave-one-out method of analysis. All statistical analyses were accomplished in R software.
Results:
Our results showed that 23 metabolites have a causal connection with IPF. Following sensitivity analysis, 2 robust and 12 potential causal association pairs were identified among the known metabolites. These 14 causal pairs concerned six metabolites.
Conclusion:
This study presents a novel perspective on potential mechanisms involved in IPF with important significance for screening, prevention, and treatment.
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