Characteristics of Immune Cells and Causal Relationship with Chondromalacia: A Two-Sample, Bidirectional Mendelian Randomization Study.

Abstract

Chondromalacia, characterized by the softening of cartilage, is a prevalent condition affecting joint health with complex etiology. The immune system's role in its pathogenesis has been implicated but remains to be fully elucidated. To address a critical knowledge gap, we conducted a two-sample Mendelian randomization analysis of 731 immune cell phenotypes, assessing parameters like fluorescence, cell count, and morphology. After sensitivity and pleiotropy checks, and applying a false discovery rate correction, our study linked 17 phenotypes to chondromalacia(P < 0.05). Among them, 7 immune cell phenotypes were found to have a protective effect against chondromalacia (IVW: P < 0.05, OR < 1), while 10 were considered risk factors (IVW : P< 0.05, OR > 1). Despite the constraints of sample size and possible genetic differences among populations, our research has identified a notable genetic correlation between specific immune cell indicators and chondromalacia. This breakthrough sheds light on the pathophysiological mechanisms of the condition. The identification of protective and risk-associated immune cell phenotypes provides a foundation for further exploration of immunological mechanisms in chondromalacia and may pave the way for targeted interventions. Future research is warranted to validate these findings and explore their clinical implications.