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IL1A polymorphisms is a risk factor for colorectal cancer in Chinese Han population: a case control study.

ABSTRACT: BACKGROUND:Colorectal cancer (CRC) is one of the most common cancers worldwide, and genetic variations exert distinct roles in its pathogenesis. Single nucleotide polymorphisms (SNPs) in interleukin 1 alpha (IL1A) were reported to be correlated to the susceptibility of diverse cancers. The aim of this study was to assess the association of IL1A SNPs with the risk of colorectal cancer in a Chinese Han population. METHODS:To evaluate the correlation between IL1A polymorphisms and CRC risk, Agena MassARRAY platform was used for genotype determination among 248 CRC patients and 463 controls. The relationships between IL1A variants and CRC susceptibility were examined by logistic regression analysis. Stratified analysis was conducted for the association detection in males and females. Haplotype construction and analysis were applied to evaluate the potential relationship between the genetic block and the risk of CRC. SNP functional exploration was performed with available bioinformatics datasets. RESULTS:After adjusting for age and gender, the "AA" genotype of rs2856838 exhibited a risk association with colorectal cancer in the recessive model (adjusted OR?=?1.98, 95% CI: 1.05-3.72, p?=?0.036). With stratified analysis, the recessive models of rs3783550 (OR?=?2.17, 95% CI: 1.03-4.60, p?=?0.043), rs2856838 (OR?=?2.58, 95% CI: 1.13-5.87, p?=?0.024), rs1609682 (OR?=?2.20, 95% CI: 1.04-4.65, p?=?0.040), and rs3783521 (OR?=?2.13, 95% CI: 1.01-4.49, p?=?0.048) revealed significant relationships between these variants and an increased CRC risk only in females. Bioinformatics analysis also revealed the putative functions of the selected SNPs. CONCLUSIONS:This study demonstrated that rs2856838 could influence the susceptibility to CRC in Chinese Han population from northwest China. IL1A variants rs3783550, rs2856838, rs1609682, and rs3783521 were associated with CRC risk only in females.

SUBMITTER: Ji H

PROVIDER: S-EPMC6394039 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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IL1A polymorphisms is a risk factor for colorectal cancer in Chinese Han population: a case control study.

Ji Hong H Lu Le L Huang Jingjing J Liu Yang Y Zhang Binchao B Tang Hui H Sun Dangze D Zhang Yafei Y Shang Hao H Li Yiming Y Lu Hongwei H

BMC cancer 20190228 1

<h4>Background</h4>Colorectal cancer (CRC) is one of the most common cancers worldwide, and genetic variations exert distinct roles in its pathogenesis. Single nucleotide polymorphisms (SNPs) in interleukin 1 alpha (IL1A) were reported to be correlated to the susceptibility of diverse cancers. The aim of this study was to assess the association of IL1A SNPs with the risk of colorectal cancer in a Chinese Han population.<h4>Methods</h4>To evaluate the correlation between IL1A polymorphisms and CR ...[more]

PMID: 30819119

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Project description:BackgroundLumbar disc herniation (LDH) is a complex spinal disease, with multiple genetic polymorphisms being related to its risk. Nevertheless, the role of LINC-PINT polymorphisms in LDH risk has remained unknown. Therefore, this study aimed to investigate the association between LINC-PINT polymorphisms and LDH risk.MethodsDNA was extracted from 504 LDH patients and 500 healthy controls. Three single nucleotide polymorphisms (SNPs) in LINC-PINT were selected and genotyped using Agena MassARRAY. We used logistic regression analysis to calculate odds ratios (ORs) and 95% confidence intervals (95% CIs) under multiple genetic models to evaluate the association between LINC-PINT polymorphisms and LDH risk. Haploview 4.2 and SNPStats software were used to evaluate the linkage strength of SNPs and the correlation between haplotypes and LDH risk. The impact of SNP-SNP interactions on LDH risk was analyzed using multi-factor dimensionality reduction (MDR).ResultsResults showed that rs157916 (G vs. A: OR = 1.23, FDR-p = 0.029) and rs7801029 (G vs. C: OR = 1.39, FDR-p = 0.006; GG vs. CC: OR = 2.34, FDR-p = 0.038; recessive: OR = 2.13, FDR-p = 0.045; additive: OR = 1.39, FDR-p = 0.030) were associated with an increased risk of LDH. Furthermore, LINC-PINT rs157916 and rs780129 were found to be significantly associated with LDH risk in males. The "GGG" haplotype was associated with increased LDH risk (OR = 1.41, FDR-p = 0.006). MDR analysis indicated that the interaction between rs7801029 and rs16873842 was associated with an increased risk of LDH (OR = 1.47, p = 0.004). Additionally, there were significant differences in C-reactive protein levels among different genotypes of rs157916 and rs780129 (p < 0.05).ConclusionThis study suggests that LINC-PINT gene polymorphisms (rs157916 and rs7801029) are considered risk factors for LDH in the Chinese Han population and provide a scientific basis for early screening, prevention, and diagnosis of LDH.

Dataset Information

IL1A polymorphisms is a risk factor for colorectal cancer in Chinese Han population: a case control study.

Publications

IL1A polymorphisms is a risk factor for colorectal cancer in Chinese Han population: a case control study.

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