Dataset Information

Relationship of common variants in Interleukin 33 gene with susceptibility and prognosis of osteosarcoma in Han Chinese population.

ABSTRACT: Osteosarcoma (OS) is one of the most common malignant bone tumors. Many previous studies have indicated that OS is a complex disease and that its development may be affected by multiple genetic factors, which may contribute to its carcinogenesis. The aim of the present study was to evaluate the relationship of IL-33 with susceptibility and prognosis of OS in Han Chinese individuals. A total of 1,605 study subjects including 507 OS patients and 1,098 controls were recruited. Eighteen SNPs mapped to IL-33 were selected for genotyping. Genetic associations between selected SNPs and OS disease status were evaluated. Survival analyses, including Kaplan-Meier analysis and Cox model fitting for significant SNPs, were performed. The functional consequences of significant SNPs were analyzed using a publicly available database. SNP rs1048274 was identified to be significantly associated with OS disease status (OR=0.75, P=1.53×10-4). Compared to the GA and GG groups, OS patients with the AA genotype of rs1048274 had better survival rate. The hazard ratio of SNP rs1048274 (AA group compared to GG+GA group) was 0.35 (95% confidence interval of 0.25-0.5) following adjustment for several clinical variables. In conclusion, our results suggested that IL-33 may play a key role in the etiology of OS, indicating IL-33 as a potential genetic risk factor of the development and prognosis of OS.

SUBMITTER: Kang C

PROVIDER: S-EPMC6400670 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Relationship of common variants in Interleukin 33 gene with susceptibility and prognosis of osteosarcoma in Han Chinese population.

Kang Chao C Zhao Jianwu J Wang Yuanchun Y Yang Chenguang C Chen Jie J Zhi Liqiang L

Journal of Cancer 20190129 5

Osteosarcoma (OS) is one of the most common malignant bone tumors. Many previous studies have indicated that OS is a complex disease and that its development may be affected by multiple genetic factors, which may contribute to its carcinogenesis. The aim of the present study was to evaluate the relationship of <i>IL-33</i> with susceptibility and prognosis of OS in Han Chinese individuals. A total of 1,605 study subjects including 507 OS patients and 1,098 controls were recruited. Eighteen SNPs ...[more]

PMID: 30854122

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Project description:BackgroundPrevious studies have shown that individuals with schizophrenia have a greater risk for psoriasis than a typical person. This suggests that there might be a shared genetic etiology between the 2 conditions. We aimed to characterize the potential shared genetic susceptibility between schizophrenia and psoriasis using genome-wide marker genotype data.MethodsWe obtained genetic data on individuals with psoriasis, schizophrenia and control individuals. We applied a marker-based coheritability estimation procedure, polygenic score analysis, a gene set enrichment test and a least absolute shrinkage and selection operator regression model to estimate the potential shared genetic etiology between the 2 diseases. We validated the results in independent schizophrenia and psoriasis cohorts from Singapore.ResultsWe included 1139 individuals with psoriasis, 744 with schizophrenia and 1678 controls in our analysis, and we validated the results in independent cohorts, including 441 individuals with psoriasis (and 2420 controls) and 1630 with schizophrenia (and 1860 controls). We estimated that a large fraction of schizophrenia and psoriasis risk could be attributed to common variants (h2SNP = 29% ± 5.0%, p = 2.00 × 10-8), with a coheritability estimate between the traits of 21%. We identified 5 variants within the human leukocyte antigen (HLA) gene region, which were most likely to be associated with both diseases and collectively conferred a significant risk effect (odds ratio of highest risk quartile = 6.03, p < 2.00 × 10-16). We discovered that variants contributing most to the shared heritable component between psoriasis and schizophrenia were enriched in antigen processing and cell endoplasmic reticulum.LimitationsOur sample size was relatively small. The findings of 5 HLA gene variants were complicated by the complex structure in the HLA region.ConclusionWe found evidence for a shared genetic etiology between schizophrenia and psoriasis. The mechanism for this shared genetic basis likely involves immune and calcium signalling pathways.

Project description:BackgroundlncRNA MIR17HG was upregulated in glioma, and participated in promoting proliferation, migration and invasion of glioma. However, the role of MIR17HG polymorphisms in the occurrence and prognosis of glioma is still unclear.MethodsIn the study, 592 glioma patients and 502 control subjects were recruited. Agena MassARRAY platform was used to detect the genotype of MIR17HG polymorphisms. Logistic regression analysis was used to evaluate the relationship between MIR17HG single nucleotide polymorphisms (SNPs) and glioma risk by odds ratio (OR) and 95% confidence intervals (CIs). Kaplan-Meier curves, Cox hazards models were performed for assessing the role of these SNPs in glioma prognosis by hazard ratios (HR) and 95% CIs.ResultsWe found that rs7318578 (OR = 2.25, p = 3.18 × 10- 5) was significantly associated with glioma susceptibility in the overall participants. In the subgroup with age < 40 years, rs17735387 (OR = 1.53, p = 9.05 × 10- 3) and rs7336610 (OR = 1.35, p = 0.016) were related to the higher glioma susceptibility. More importantly, rs17735387 (HR = 0.82, log-rank p = 0.026) were associated with the longer survival of glioma patients. The GA genotype of rs17735387 had a better overall survival (HR = 0.75, log-rank p = 0.013) and progression free survival (HR = 0.73, log-rank p = 0.032) in patients with I-II glioma. We also found that rs72640334 was related to the poor prognosis (HR = 1.49, Log-rank p = 0.035) in female patients. In the subgroup of patients with age ≥ 40 years, rs17735387 was associated with a better prognosis (HR = 0.036, Log-rank p = 0.002).ConclusionOur study firstly reported that MIR17HG rs7318578 was a risk factor for glioma susceptibility and rs17735387 was associated with the longer survival of glioma among Chinese Han population, which might help to enhance the understanding of MIR17HG gene in gliomagenesis. In subsequent studies, we will continue to collect samples and follow up to further validate our findings and further explore the function of these MIR17HG SNPs in glioma in a larger sample size.

Dataset Information

Relationship of common variants in Interleukin 33 gene with susceptibility and prognosis of osteosarcoma in Han Chinese population.

Publications

Relationship of common variants in Interleukin 33 gene with susceptibility and prognosis of osteosarcoma in Han Chinese population.

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