Dataset Information

Two variants of Interleukin-1B gene are associated with the decreased risk, clinical features, and better overall survival of colorectal cancer: a two-center case-control study.

ABSTRACT: Interleukin (IL)-1B reportedly promotes the stemness and invasiveness of colon cancer cells. Several studies have investigated the association between IL-1B gene polymorphisms and colorectal cancer (CRC) risk, but report conflicting findings. Here, this association was explored in a hospital-based case-control study involving 527 CRC cases and 639 controls from two Chinese Han populations. Genotyping was done by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The IL-1B expression in CRC patients and controls were obtained from the GEPIA database and the mRNA expressions of different genotypes were downloaded from the GTEx portal database. The relationship of two IL-1B gene loci with clinical parameters and overall survival were analyzed using the Chi-square test and Kaplan-Meier analysis with the log-rank test respectively. It was found that the IL-1B mRNA levels in CRC patients were significantly higher than in controls. Bioinformatic analysis suggested that rs1143634 and rs1143623 polymorphisms decreased the IL-1B mRNA expression. The two polymorphisms were associated with decreased risk for CRC. Stratified analyses revealed the IL-1B gene rs1143623 and rs1143634 polymorphisms decreased the risk of CRC among females, smokers and drinkers. Moreover, the CC and/or GC genotype of rs1143623 polymorphism were correlated with decreased risk among CRC patients with tumor size ?5cm, TNM stage III+IV, and rectal cancer. For rs1143634 polymorphism, the CT genotype reduced the risk of colorectal adenocarcinoma. The CRC patients carrying CC genotype of rs1143623 polymorphism were associated with better overall survival. In conclusion, IL-1B gene rs1143623 and rs1143634 polymorphisms are associated with decreased risk for CRC patients and thereby play important roles in the etiology of CRC.

SUBMITTER: Qian H

PROVIDER: S-EPMC6326653 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Two variants of Interleukin-1B gene are associated with the decreased risk, clinical features, and better overall survival of colorectal cancer: a two-center case-control study.

Qian Haihua H Zhang Dan D Bao Chuanqing C

Aging 20181201 12

Interleukin (IL)-1B reportedly promotes the stemness and invasiveness of colon cancer cells. Several studies have investigated the association between IL-1B gene polymorphisms and colorectal cancer (CRC) risk, but report conflicting findings. Here, this association was explored in a hospital-based case-control study involving 527 CRC cases and 639 controls from two Chinese Han populations. Genotyping was done by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The IL ...[more]

PMID: 30563955

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Project description:BackgroundVitiligo is a depigmenting disorder resulting from loss of functional melanocytes in the skin. NPY plays an important role in induction of immune response by acting on a variety of immune cells. NPY synthesis and release is governed by IL1B. Moreover, genetic variability in IL1B is reported to be associated with elevated NPY levels.ObjectivesAim of the present study was to explore NPY promoter -399T/C (rs16147) and exon2 +1128T/C (rs16139) polymorphisms as well as IL1B promoter -511C/T (rs16944) polymorphism and to correlate IL1B transcript levels with vitiligo.MethodsPCR-RFLP method was used to genotype NPY -399T/C SNP in 454 patients and 1226 controls; +1128T/C SNP in 575 patients and 1279 controls and IL1B -511C/T SNP in 448 patients and 785 controls from Gujarat. IL1B transcript levels in blood were also assessed in 105 controls and 95 patients using real-time PCR.ResultsGenotype and allele frequencies for NPY -399T/C, +1128T/C and IL1B -511C/T SNPs differed significantly (p<0.0001, p<0.0001; p?=?0.0161, p?=?0.0035 and p<0.0001, p<0.0001) between patients and controls. 'TC' haplotype containing minor alleles of NPY polymorphisms was significantly higher in patients and increased the risk of vitiligo by 2.3 fold (p<0.0001). Transcript levels of IL1B were significantly higher, in patients compared to controls (p?=?0.0029), in patients with active than stable vitiligo (p?=?0.015), also in female patients than male patients (p?=?0.026). Genotype-phenotype correlation showed moderate association of IL1B -511C/T polymorphism with higher IL1B transcript levels. Trend analysis revealed significant difference between patients and controls for IL1B transcript levels with respect to different genotypes.ConclusionOur results suggest that NPY -399T/C, +1128T/C and IL1B -511C/T polymorphisms are associated with vitiligo and IL1B -511C/T SNP influences its transcript levels leading to increased risk for vitiligo in Gujarat population. Up-regulation of IL1B transcript in patients advocates its possible role in autoimmune pathogenesis of vitiligo.

Project description:PurposeTo explore the potential of radiomics texture features as potential biomarkers to enable detection of the presence of BRAF mutation and prediction of 5-year overall survival (OS) in stage IV colorectal cancer (CRC).Materials and methodsIn this retrospective study, a total of 145 patients (mean age, 61 years ± 14 [standard deviation {SD}]; 68 female patients and 77 male patients) with stage IV CRC who underwent molecular profiling and pretreatment contrast material-enhanced CT scans between 2004 and 2018 were included. Tumor radiomics texture features, including the mean, the SD, the mean value of positive pixels (MPP), skewness, kurtosis, and entropy, were extracted from regions of interest on CT images after applying three Laplacian-of-Gaussian filters known as spatial scaling factors (SSFs) (SSF = 2, fine; SSF = 4, medium; SSF = 6, coarse) by using specialized software; values of these parameters were also obtained without filtration (SSF = 0). The Wilcoxon rank sum test was used to assess differences between mutated versus wild-type BRAF tumors. Associations between radiomics texture features and 5-year OS were determined by using Kaplan-Meier estimators using the log-rank test and multivariate Cox proportional-hazards regression analysis.ResultsThe SDs and MPPs of radiomic texture features were significantly lower in BRAF mutant tumors than in wild-type BRAF tumors at SSFs of 0, 4, and 6 (P = .006, P = .007, and P = .005, respectively). Patients with skewness less than or equal to -0.75 at an SSF of 0 and a mean of greater than or equal to 17.76 at an SSF of 2 showed better 5-year OS (hazard ratio [HR], 0.53 [95% confidence interval {CI}: 0.29, 0.94]; HR, 0.40 [95% CI: 0.22, 0.71]; log-rank P = .025 and P = .002, respectively). Tumor location (right colon vs left colon vs rectum) had no significant impact on the clinical outcome (log-rank P = .53).ConclusionRadiomics texture features can serve as potential biomarkers for determining BRAF mutation status and as predictors of 5-year OS in patients with advanced-stage CRC.Keywords: Abdomen/GI, CT, Comparative Studies, Large BowelSupplemental material is available for this article.© RSNA, 2020.

Dataset Information

Two variants of Interleukin-1B gene are associated with the decreased risk, clinical features, and better overall survival of colorectal cancer: a two-center case-control study.

Publications

Two variants of Interleukin-1B gene are associated with the decreased risk, clinical features, and better overall survival of colorectal cancer: a two-center case-control study.

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