Interleukin-1 Family: From Genes to Human Disease

Laurincová, Beáta

doi:10.5507/bp.2000.002

Cited by 25 publications

(19 citation statements)

References 140 publications

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“…25 These three polymorphisms directly affect protein structure and alter its function, not by affecting the sequence of amino acids in polypeptide chains, but rather at different transcriptional or post-transcriptional levels by altering the structure of the gene's regulatory elements with binding sites for transcription factors, transcription rate, mRNA splicing, and mRNA stability. 26 Genetically, we need to understand which alleles are linked. It follows that the linkage disequilibrium (LD) and haplotype structure of a candidate gene is important for association analyses to understand how polymorphisms contribute to the risk of disease and population variance of certain phenotypes of interest.…”

Section: Introductionmentioning

confidence: 99%

Association of Interleukin-1βGene and Receptor Antagonist Polymorphisms with Calcium Oxalate Urolithiasis

Mittal

Bid²,

Manchanda³

et al. 2007

Journal of Endourology

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Section: Introductionmentioning

confidence: 99%

Association of Interleukin-1βGene and Receptor Antagonist Polymorphisms with Calcium Oxalate Urolithiasis

Mittal

Bid²,

Manchanda³

et al. 2007

Journal of Endourology

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“…This gene cluster includes, within a 360-kb region, the IL-1␣ (IL1A), IL-1␤ (IL1B), IL1F7, IL1F9, IL1F6, IL1F8, IL1F5, IL1F10, and IL-1 receptor antagonist (IL1RN) genes. The IL1F5-IL1F10 genes in this cluster are widely expressed, including on activated monocytes and B cells, and signal through a range of IL-1 receptors (9,10). Several may function as IL-1 antagonists due to their sequence similarity to IL1RN, although their function is largely unknown.…”

mentioning

confidence: 99%

Association of the IL1 gene cluster with susceptibility to ankylosing spondylitis: An analysis of three Canadian populations

Maksymowych

Rahman

Reeve

et al. 2006

Arthritis & Rheumatism

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Objective. To examine the association between the IL1 gene cluster and susceptibility to ankylosing spondylitis (AS) in 3 independent case-control cohorts.Methods. We analyzed 394 patients and 446 controls from Alberta, Newfoundland, and Toronto, Canada. Samples were genotyped using a panel of 38 single-nucleotide polymorphism (SNP) markers within the IL1 gene cluster. Data from 20 informative and nonredundant SNP markers were analyzed using several association test strategies. First, we used the program WHAP to identify single-marker associations. Second, we used WHAP to analyze "sliding windows" of 3 contiguous markers along the entire extent of the IL1 gene cluster in order to identify haplotypic associations. Third, we used the linkage disequilibrium mapping program DMLE to estimate the posterior probability distribution of a disease locus.Results. A total of 14 SNP markers showed significant single-locus disease associations, the most significant being rs3783526 (IL1A) (P ‫؍‬ 0.0009 in the Alberta cohort, P ‫؍‬ 0.04 in the Newfoundland cohort) and rs1143627 (IL1B) (P ‫؍‬ 0.0005 in the Alberta cohort, P ‫؍‬ 0.02 in the Newfoundland cohort). Analysis of 3-marker sliding windows revealed significant and consistent associations with all of the haplotypes in the IL1A and IL1B loci in the Alberta cohort and with IL1B in the Newfoundland cohort, especially haplotypes rs1143634/rs1143630/rs3917356 and rs1143630/ rs3917356/rs3917354 (P ‫؍‬ 0.006-0.0001). With DMLE, a strong peak in the probability distribution was estimated near IL1A in both the Alberta and the Newfoundland populations.Conclusion. These results indicate that the IL1 locus, or a locus close to IL1, is associated with susceptibility to AS.

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“…Although these four SNPs do not occur in a coding region, these germ line variants may still influence protein production by transcriptional or posttranscriptional activities (22) including transcriptional factors, transcription rate, messenger RNA splicing or messenger RNA stability (23). In silico analyses using SNPInfo (24) revealed that the rs1047275 locus is located in the binding sites for miR-379 and miR-473 and may potentially regulate TNFRSF10B expression.…”

Section: Discussionmentioning

confidence: 99%

TNFRSF10B polymorphisms and haplotypes associated with increased risk of death in non-small cell lung cancer

Schabath¹,

Giuliano²,

Thompson³

et al. 2013

Carcinogenesis

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Presently, there are few validated biomarkers that can predict survival or treatment response for non-small cell lung cancer (NSCLC) and most are based on tumor markers. Biomarkers based on germ line DNA variations represent a valuable complementary strategy, which could have translational implications by subclassifying patients to tailored, patient-specific treatment. We analyzed single nucleotide polymorphisms (SNPs) in 53 inflammation-related genes among 651 NSCLC patients. Multivariable Cox proportional hazard models, adjusted for lung cancer prognostic factors, were used to assess the association of genotypes and haplotypes with overall survival. Four of the top 15 SNPs associated with survival were located in the TNF-receptor superfamily member 10b (TNFRSF10B) gene. The T-allele of the top ranked SNP (rs11785599) was associated with a 41% increased risk of death (95% confidence interval [CI] = 1.16-1.70) and the other three TNFRSF10B SNPs (rs1047275, rs4460370 and rs883429) exhibited a 35% (95% CI = 1.11-1.65), 29% (95% CI = 1.06-1.57) and 24% (95% CI = 0.99-1.54) increased risk of death, respectively. Haplotype analyses revealed that the most common risk haplotype (TCTT) was associated with a 78% (95% CI = 1.25-2.54) increased risk of death compared with the lowrisk haplotype (CGCC). When the data were stratified by treatment, the risk haplotypes exhibited statistically significantly increased risk of death among patients who had surgery only and no statistically significant effects among patients who had surgery and adjuvant chemotherapy. These data suggest that possessing one or more risk alleles in TNFRSF10B is associated with an increased risk of death. Validated germ line biomarkers may have potential important clinical implications by optimizing patient-specific treatment.

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Interleukin-1 Family: From Genes to Human Disease

Cited by 25 publications

References 140 publications

Association of Interleukin-1βGene and Receptor Antagonist Polymorphisms with Calcium Oxalate Urolithiasis

Association of Interleukin-1βGene and Receptor Antagonist Polymorphisms with Calcium Oxalate Urolithiasis

Association of the IL1 gene cluster with susceptibility to ankylosing spondylitis: An analysis of three Canadian populations

TNFRSF10B polymorphisms and haplotypes associated with increased risk of death in non-small cell lung cancer

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