rs1126772

This case-control study within the IMMEnSE consortium (3,056 MM patients and 1,960 controls) investigated associations between polymorphic 3' untranslated region (p3UTR) variants in six candidate genes and multiple myeloma (MM) risk and overall survival. IL10 rs3024496 A-allele showed significant association with increased MM risk (OR=1.20-1.24) and shorter overall survival (HR=1.42-1.44). Functional studies demonstrated the A-allele decreased IL10 mRNA expression by ~6%, consistent with in vivo GTEx data, suggesting rs3024496 modulates immune homeostasis and disease prognosis in MM.

A case-control association study in 311 Chinese gastric cancer patients and 425 controls identified SNPs in osteopontin (OPN) and CD44 genes associated with gastric cancer susceptibility. OPN rs4754 (OR 0.642, p=1.53×10⁻⁴) and rs9138 (OR 0.642, p=1.59×10⁻⁴) were protective, while OPN rs1126772 (OR 1.279, p=0.042) and CD44 rs353639 (OR 1.334, p=0.047) increased risk. OPN and CD44 protein expression were detected in tumor tissues and correlated with TNM stage and metastasis.

This comprehensive review examines genetic associations in type I interferon-related signaling pathways across multiple autoimmune diseases. The authors review evidence linking dysregulated interferon alpha (IFNα) signaling to systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and other autoimmune conditions, identifying multiple susceptibility genes including IFIH1, IRF5, STAT4, TYK2, BLK, BANK1, FCGR2A, and TREX1 with well-replicated associations and functional relevance to IFN pathway dysfunction.