rs9138

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.

Study of 137 gastric cancer patients identified CD44 polymorphisms rs187116 (+4883G>A) and rs7116432 (+779G>A) as independent prognostic markers for clinical outcomes. Patients carrying the favorable genotypes (A/A for rs187116 or G/G for rs7116432) showed significantly longer time to tumor recurrence and overall survival compared to those with other genotypes in univariate analysis. This finding supports the use of these CD44 variants for predicting therapeutic response in gastric cancer patients treated with surgical resection and adjuvant 5-fluorouracil therapy.

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.