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Exploring the Relationship Between Immune Cells and Scoliosis by Mendelian Randomization, Colocalization Analysis,
Chaofan Qin1, Zhengjian Yan1, Qingshuai Yu1
1Department of Orthopedics, Second Affiliated Hospital, Chongqing Medical University, Chongqing, China.
Mediators of Inflammation
|April 3, 2025
Summary
This study used Mendelian randomization to investigate the link between immune cells and scoliosis. Six immune cell types were found to have independent effects on scoliosis risk, offering new research directions.
Area of Science:
- Immunology
- Genetics
- Orthopedics
Background:
- Scoliosis affects millions annually, with growing research interest in the immune system's role.
- The precise relationship between immune system activity and scoliosis pathogenesis requires further clarification.
Purpose of the Study:
- To explore the potential causal relationship between various immune cells and the development of scoliosis.
- To identify specific immune cell types and genetic factors influencing scoliosis risk.
Main Methods:
- A comprehensive Mendelian randomization (MR) analysis was conducted using 731 immune cell traits.
- Univariable and multivariable MR analyses were employed to assess causal relationships and control for confounding.
- Cochran's Q test, leave-one-out analysis, MR-Egger intercept, colocalization, and SMR analyses were performed.
Main Results:
- Univariable MR identified 13 immune cells associated with scoliosis (4 risk factors, 9 protective factors).
- Multivariable MR revealed six immune cell types with independent effects on scoliosis.
- Specific gene variants were associated with immune cell types (e.g., SERPINH1 with CX3CR1, FSD1L with CCR2, and multiple genes with HLA DR).
Conclusions:
- The study suggests a significant link between specific immune cells and scoliosis.
- Key genes associated with immune cell function in relation to scoliosis were identified.
- Further experimental investigation is needed to elucidate the underlying biological mechanisms.
