Gene association analysis to determine the causal relationship between immune cells and juvenile idiopathic arthritis

• DOI: 10.1186/s12969-024-00970-8
• Publication Date: 2024-03-08T09:02:39Z
• Authors: Longhao Chen; Xingchen Zhou; Chao Yang; Hong Jiao Wu; Yu Tian; Shuangwei Hong; Huijie Hu; Kaizheng Wang; Shuang Wu; Zicheng Wei; Tao Li; Yuanshen Huang; Zihan Hua; Qiong Xia; Xiao Jie Chen; Zhizhen Lv; Lijiang Lv
• Keywords: Mendelian Randomization; Genetic Association

Abstract Background Juvenile idiopathic arthritis (JIA) is a type of chronic childhood with complex pathogenesis. Immunological studies have shown that JIA an acquired self-inflammatory disease, involving variety immune cells, and it also affected by genetic environmental susceptibility. However, the precise causative relationship between phenotype cells remains unclear to date. The objective our study approach this inquiry from perspective, employing method association analysis ascertain causal phenotypes onset JIA. Methods In study, two-sample Mendelian randomization (MR) was used select single nucleotide polymorphisms (SNPs) significantly associated as instrumental variables analyze bidirectional 731 There were four types features (median fluorescence intensity (MFI), relative cellular (RC), absolute (AC), morphological parameters (MP)). Finally, heterogeneity horizontal reproducibility results verified sensitivity analysis, which ensured more robust results. Results We found CD3 on CM CD8br causally at level 0.05 significant difference (95% CI = 0.630 ~ 0.847, P 3.33 × 10 −5 , FDR 0.024). At significance 0.20, two immunophenotypes JIA, namely: HLA DR CD14+ CD16- monocyte 0.633 0.884, 6.83 –4, 0.16) 0.627 0.882, 6.9 −4 0.16). Conclusion Our assessed effect perspective. These findings emphasize important role in pathogenesis lay foundation for further