Exploring the Relationship Between Immune Cells and Scoliosis by Mendelian Randomization, Colocalization Analysis, and SMR
Chaofan Qin
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorZhengjian Yan
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorQingshuai Yu
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorMingxin Chen
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorTao Hu
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorXin Wang
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorBo Lei
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorYu Chen
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorKe Ma
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorCorresponding Author
Zhongliang Deng
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorCorresponding Author
Si Cheng
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorChaofan Qin
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorZhengjian Yan
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorQingshuai Yu
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorMingxin Chen
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorTao Hu
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorXin Wang
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorBo Lei
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorYu Chen
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorKe Ma
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorCorresponding Author
Zhongliang Deng
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorCorresponding Author
Si Cheng
Department of Orthopedics , Second Affiliated Hospital , Chongqing Medical University , Chongqing , China , cqmu.edu.cn
Search for more papers by this authorAbstract
Background: Scoliosis is a condition that can have severe consequences for millions of individuals on an annual basis. Current research in this field is increasingly focusing on the role of the immune system in the development of the disease. However, the precise relationship between immunity and scoliosis remains to be fully elucidated.
Method: Our investigation involved a comprehensive Mendelian randomization (MR) analysis to explore the potential causal relationship between immune cells and scoliosis. The comprehensive univariable MR analysis encompassed 731 immune cells to explore their relationship with scoliosis. Cochran’s Q test, the leave-one-out test, and MR-Egger intercept analysis were used to assess pleiotropy and heterogeneity. We performed multivariable MR analysis to account for potential confounding factors between the immune cells. The colocalization analysis and summary data-based MR (SMR) analysis were utilized to explore relationship between immune cells and cis-eQTL.
Results: Our study identified 13 immune cells that were significantly associated with scoliosis by univariable MR, including four risk factors and nine protective factors for scoliosis. In order to reduce confounding between immune cells, multivariable MR was employed, and it was determined that only six immune cell types had independent effects on scoliosis. SERPINH1 shared the same variant with CX3CR1 on CD14− CD16−. FSD1L shared the same variant with CCR2 on CD14− CD16−. SNHG14, SNORA33, NET1, and SNORD100 shared the same variant with HLA DR on CD14+ CD16+ monocyte.
Conclusion: Our findings suggested a possible link between immune cells and scoliosis and found the key genes for the immune cell, which provides a new direction for further research. However, the specific underlying mechanisms require further investigation in future experiments.
Conflicts of Interest
The authors declare no conflicts of interest.
Open Research
Data Availability Statement
The data that support the findings of this study are openly available in GWAS Catalog (https://www.ebi.ac.uk/gwas), IEU Open GWAS (https://gwas.mrcieu.ac.uk), eQTLGen Consortium (https://www.eqtlgen.org/cis-eqtls.html) and FinnGen database (https://www.finngen.fi/en).
Supporting Information
| Filename | Description |
|---|---|
| mi8833556-sup-0001-f1.docxWord 2007 document , 27.1 KB | Supporting Information 1 Table S1: Information on the univariable MR of SNPs and the F-statistic of SNPs. |
| mi8833556-sup-0002-f2.docxWord 2007 document , 178.4 KB | Supporting Information 2 Table S2: The results of univariable MR between the 731 immune cells and scoliosis. |
| mi8833556-sup-0003-f3.docxWord 2007 document , 22.6 KB | Supporting Information 3 Table S3: The significant results of univariable MR between the 40 immune cells and scoliosis. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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