rs419598

In an Algerian case-control study of 358 subjects (147 healthy, 89 IBD, 122 CRC), the rs28362491 -94 ATTG insertion/deletion polymorphism in the NF κ B1 promoter showed significant association with increased inflammatory bowel disease (IBD) risk, with the deletion allele conferring elevated risk (OR = 2.034; 95% CI, 1.16-3.55; p = 0.012). Functional assays in LoVo colon cancer cells demonstrated that SOX9 transcription factor modulates NF κ B1 promoter activity in an allele-specific manner at the SNP site. Two other tested variants (rs6920220 in TNFAIP3 and rs419598 in IL1RN) showed no significant associations with IBD or colorectal cancer.

This systematic literature review examines interleukin and interleukin receptor gene polymorphisms associated with rheumatoid arthritis (RA) pathogenesis, diagnostics, and treatment. The paper summarizes polymorphisms in multiple IL genes (IL-1B rs16944, rs1143634; IL-6 rs1800795, rs1800796; IL-10 rs1800896; IL-23R rs11209026; IL-17A rs2275913 and others) across diverse populations, their associations with RA susceptibility and disease severity, and discusses current and future immunologic therapeutic targets including TNF inhibitors and IL-6 receptor antagonists.

Meta-analysis of five case-control studies (302 IPF patients, 879 controls) showing that the IL1RN VNTR*2 haploblock (combining VNTR with rs408392 and rs419598 minor alleles) is significantly associated with idiopathic pulmonary fibrosis risk (allelic model OR=1.42, p=0.002; dominant model OR=1.60, p=0.002). rs2637988 GG genotype was associated with lower IL1RN mRNA expression levels in healthy controls (p<0.001), suggesting the mechanism involves reduced IL-1Ra protein that fails to counteract pro-fibrotic IL-1.

This case-control association study examined whether four coding SNPs in the IL-1 gene cluster (rs17561, rs1143634, rs419598, rs315952) are associated with Kawasaki disease (KD) susceptibility and coronary artery lesion (CAL) development in 109 Korean KD patients and 287 healthy controls. No significant associations were found between any of the four IL-1 cSNPs and KD or CAL development (all P > 0.05), suggesting the IL-1 gene cluster members are not genetic markers of KD susceptibility in the Korean population.

This systematic literature review examines interleukin (IL) and interleukin receptor gene polymorphisms associated with rheumatoid arthritis (RA), covering studies from the past 10 years. The review discusses the pathogenesis of RA as a multifactorial autoimmune disease where genetic factors account for approximately 60% of disease risk. Multiple polymorphisms across IL-1, IL-2, IL-4, IL-6, IL-8, IL-10, IL-15, IL-17, IL-18, and IL-23R genes have been investigated in various populations, with inconsistent results across populations. The paper also reviews current and future therapeutic targets including anti-TNF, anti-IL-1, anti-IL-6, and anti-IL-17 treatments.

This computational modeling study examined IL-1 protein-receptor interactions in schizophrenia by analyzing genetic polymorphisms associated with the disease. The authors identified and analyzed 12 SNPs in IL-1 pathway genes (IL-1α, IL-1β, IL-1RA) and modeled their structural effects. The key finding was that rs315952 (p.Ser130Arg in IL-1RA) leads to weakened binding of IL-1RA to IL-1 receptors, potentially triggering the IL-1 signaling pathway and contributing to schizophrenia pathogenesis through dysregulated immune response.

This cross-sectional study of 964 RA patients examined associations between genetic variants in IL-1, IL-6, IL-10, PTPN22, and SEPS with radiographic damage severity. IL-6 -174G allele showed allele-dose association with increased radiographic damage (P=0.005) specifically in RF-positive and anti-CCP-positive patients. Conversely, IL-10 -592CC genotype was associated with greater damage (P=0.006) but only in RF-negative and anti-CCP-negative patients. These associations were independent of autoantibody production.