rs2227306

This case-control study of 170 Tunisian asthmatic children and 170 healthy controls found significantly elevated IL-8 serum and mRNA levels in asthmatic children, particularly those with moderate-to-severe disease. IL-8 gene variants rs4073 (A/T) and rs2227306 (C/T) were significantly associated with increased childhood asthma risk (OR=1.78, P=0.0005 and OR=1.42, P=0.040, respectively), with rs4073 T allele conferring higher risk for asthma severity.

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.

This dissertation investigated sex differences in melanoma using Connecticut Tumor Registry and Minnesota Skin Health study cohorts. Multiple SNPs in DNA repair genes (RFC1, ERCC4, ERCC5, ERCC6, PARP1, FBRSL1) and immune response genes (SMAD3, CXCL8, IFNγ, IL-17A) were associated with Breslow thickness and interacted with UV exposure to modify melanoma progression. Notably, rs4253114 (ERCC6) was the only SNP significant in both male and female sex-stratified analyses. UV exposure showed opposite effects between sexes: inversely associated with male mortality (HR 0.5-0.9 range) but not associated with female survival; skin awareness reduced Breslow thickness in females but not males.

A prospective study of 568 Chinese non-small-cell lung cancer (NSCLC) patients found that four immune gene polymorphisms were independently associated with survival: IL-5R rs11713419 (5'-UTR, P=0.001), IL23R rs6682925 (5'-FR, P=0.017), TLR1 rs5743551 (5'-FR, P=0.02), and TLR3 rs3775291 (Leu412Phe, P=0.01). Patients carrying 1 unfavorable locus had 124% increased mortality risk (HR=2.24, 95% CI: 1.33-3.75), and those with 2-4 unfavorable loci had 175% increased risk (HR=2.75, 95% CI: 1.67-4.51). Combined SNP and clinical risk score model achieved 5-year AUC of 0.831 versus 0.484 for clinical factors alone.

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.