In a study by Spiliopoulou et al. (2025), researchers identified 16 potential core genes associated with rheumatoid arthritis (RA) by analyzing the effects of common genetic variations on gene expression and protein levels in blood. These genes were pinpointed using a genome-wide aggregated trans-effects (GATE) approach in a sample of 5,400 RA cases and 453,705 controls. Six of these genes—TP53BP1, PDCD1, TNFRSF14, LAIR1, LILRA4, and IDO1—were further supported by Mendelian randomization analysis, which suggests a causal relationship with RA.
The study also validated the involvement of these genes through various methods: association with nearby genetic variations, correlation with protein levels in the UK Biobank, experimental mouse models, and human drug response data. Notably, six of the identified genes are known as immune checkpoints, which are mechanisms that can be manipulated by cancer cells to evade immune detection. This discovery underscores the importance of immune regulation in RA and opens up potential avenues for new treatments targeting these immune checkpoints.
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