rs11574891 - NOTCH1

Magnitude 4.5 · 1 study on file

Reported associations

• Genetic variation at rs11574891 and rs3125003 in NOTCH1 is associated with therapeutic efficacy of Janus kinase inhibitors in Taiwanese patients with rheumatoid arthritis. - International immunopharmacology (2025) · Lui SW, Liu FC, Lin JF, Hsu CJ, Hsieh TY, Chang YT · PubMed 41273836

  Janus kinase inhibitors (JAKi) have been widely adopted in the treatment of rheumatoid arthritis (RA); however, inter-individual variability in therapeutic response remains a significant challenge. Pharmacogenomic data specific to the Taiwanese population are still limited. This study aimed to identify single nucleotide polymorphisms (SNPs) associated with JAKi efficacy in Taiwanese RA patients. Using data from the Taiwan Precision Medicine Initiative, we analyzed RA patients receiving JAKi (n = 34) and non-JAKi treatment (n = 376) through a genome-wide association study. In a subset of patients, pretreatment peripheral blood samples were collected from 15 JAKi-treated and 54 non-JAKi individuals for immunophenotyping and polygenic risk score (PRS) modeling. GWAS identified 26 SNPs sig

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