rs1143623

A case-control study of 594 osteoporosis patients and 599 controls in northwestern Chinese Han population examined seven IL-1B variants. The AA genotype of rs2853550 was protective against osteoporosis (OR=0.11, p=0.038), while rs16944 (OR=1.19–1.42) and rs1143623 (OR=1.21–1.43) increased osteoporosis risk. The haplotype Grs1143630Ars1143627Grs16944 was associated with increased risk (OR=1.20, p=0.032), and a four-locus SNP-SNP interaction model (rs1143643, rs3136558, rs1143630, rs1143623) showed the best prediction accuracy.

This comprehensive literature review examines the role of interleukin-1 gene polymorphisms (IL1A and IL1B) in periodontitis susceptibility. Key findings indicate that rs1800587 and rs1143634 show the most consistent associations with periodontal disease across meta-analyses, though results vary significantly by ethnicity and population. Meta-analyses for rs1800587 show OR=1.22 for T allele in overall populations but significant association limited to Caucasians; rs1143634 shows OR=1.35-1.54 across multiple studies. Geographic and ethnic factors substantially influence genotype-disease correlations.

A case-control study of 279 cirrhotic patients (178 with acute-on-chronic liver failure, 101 controls) examining IL-1 gene cluster polymorphisms found that IL-1β rs1143623 CC genotype (OR=0.34) and IL-1ra rs4251961 TC genotype (OR=0.58) were protective against ACLF and associated with lower inflammatory cytokine levels and reduced 28-day mortality. The protective genotypes modulated systemic inflammation through altered IL-1 signaling pathways.

This comprehensive review synthesizes literature on gestational diabetes mellitus (GDM), demonstrating its complex multifactorial etiology involving genetic factors (SNPs in GCKR, KCNQ1, MTNR1B, TCF7L2), epigenetic modifications (DNA methylation and microRNA expression), and alterations in microbial composition across multiple body sites. While certain SNP variants are associated with GDM phenotypes globally, genetic predisposition alone does not explain disease development; lifestyle factors can modify epigenetic signatures and microbiota composition to modulate risk. Evidence indicates genes, epigenetic alterations, and microbiota can transfer from mother to offspring with long-term health consequences.

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.

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

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 study examined whether the effect of vitamin E supplementation on cytokine production in elderly nursing home residents depends on baseline cytokine levels. Among 110 elderly participants in a 1-year randomized controlled trial, the authors genotyped 7 SNPs in cytokine genes (IL-1β, IL-6, TNFα, IFNγ) and measured ex vivo cytokine production at baseline and follow-up. They found significant interactions between vitamin E treatment and baseline cytokine production for IFNγ (P=0.002-0.005), TNFα (P=0.009), IL-1β (P=0.053), and IL-6 (P=0.031), suggesting that vitamin E's immunomodulatory effects depend on individual baseline immune status.

This candidate gene association study of 1,497 Han and Uygur Chinese subjects examined four tagging SNPs in the TANIS/SELS gene for association with plasma triglyceride levels. The SNP rs12910524 was significantly associated with triglyceride concentrations (p<0.001) in dominant, recessive, and additive models in both ethnic groups, with the C allele carriers showing higher TG levels than TT homozygotes. This association remained significant after multivariate adjustment for sex, age, alcohol, smoking, BMI, and glucose. The other three SNPs (rs1384565, rs2101171, rs4965814) showed no significant associations with TG levels.

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.