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Comprehensive analysis of the effect of rs2295080 and rs2536 polymorphisms within the mTOR gene on cancer risk.mTOR 基因内 rs2295080 和 rs2536 多态性对癌症风险影响的综合分析。
Biosci Rep. 2020 Jul 31;40(7). doi: 10.1042/BSR20191825.
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Host genetics and tuberculosis: Theory of genetic polymorphism and tuberculosis.宿主遗传学与结核病:基因多态性与结核病理论
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基因多态性及基因-茶相互作用对结核病易感性的影响

Impact of gene polymorphisms and gene-tea interaction on susceptibility to tuberculosis.

作者信息

Wang Mian, Ma Shu-Juan, Wu Xin-Yin, Zhang Xian, Abesig Julius, Xiao Zheng-Hui, Huang Xin, Yan Hai-Peng, Wang Jing, Chen Meng-Shi, Tan Hong-Zhuan

机构信息

Hunan Provincial Key Laboratory of Clinical Epidemiology, Xiangya School of Public Health, Central South University, Changsha 410078, Hunan Province, China.

Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha 410078, Hunan Province, China.

出版信息

World J Clin Cases. 2020 Oct 6;8(19):4320-4330. doi: 10.12998/wjcc.v8.i19.4320.

DOI:10.12998/wjcc.v8.i19.4320
PMID:33083391
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7559685/
Abstract

BACKGROUND

gene is a key component of the PI3K/Akt/mTOR signaling pathway, and its dysregulation is associated with various diseases. Several studies have demonstrated that tea drinking is a protective factor against tuberculosis (TB). This study was designed to explore five single nucleotide polymorphisms (SNPs) of in the Han population of China to determine how their interactions with tea drinking affect susceptibility to TB.

AIM

To investigate if the polymorphisms of gene and the gene-tea interaction are associated with susceptibility to TB.

METHODS

In this case-control study, 503 patients with TB and 494 healthy controls were enrolled by a stratified sampling method. The cases were newly registered TB patients from the county-level centers for disease control and prevention, and the healthy controls were permanent residents from Xin'ansi Community, Changsha city. Demographic data and environmental exposure information including tea drinking were obtained from the study participants. We genotyped five potentially functional SNP sites (rs2295080, rs2024627, rs1057079, rs12137958, and rs7525957) of gene and assessed their associations with the risk of TB using logistic regression analysis, and marginal structural linear odds models were used to estimate the gene-environment interactions.

RESULTS

The frequencies of four SNPs (rs2295080, rs2024627, rs1057079, and rs7525957) were found to be associated with susceptibility to TB ( < 0.05). Genotypes GT (OR 1.334), GG (OR 2.224), and GT + GG (OR 1.403) at rs2295080; genotypes CT (OR 1.562) and CT + TT (OR 1.578) at rs2024627, genotypes CT (OR 1.597), CC (OR 2.858), and CT + CC (OR 1.682) at rs1057079; and genotypes CT (OR 1.559) and CT + CC (OR 1.568) at rs7525957 of gene were significantly more prevalent in TB patients than in healthy controls. The relative excess risk of interaction between the four SNPs (rs2295080, rs2024627, rs1057079, and rs7525957) of genes and tea drinking were found to be -1.5187 (95%CI: -1.9826, -1.0547, < 0.05), -1.8270 (95%CI: -2.3587, -1.2952, < 0.05), -2.3246 (95%CI: -2.9417, -1.7076, < 0.05) and -0.4235 (95%CI: -0.7756, -0.0714, < 0.05), respectively, which suggest negative interactions.

CONCLUSION

The polymorphisms of (rs2295080, rs2024627, rs1057079, and rs7525957) are associated with susceptibility to TB, and there is a negative interaction between each of the four SNPs and tea drinking.

摘要

背景

基因是PI3K/Akt/mTOR信号通路的关键组成部分,其失调与多种疾病相关。多项研究表明,饮茶是预防结核病(TB)的保护因素。本研究旨在探索中国汉族人群中该基因的五个单核苷酸多态性(SNP),以确定它们与饮茶的相互作用如何影响结核病易感性。

目的

研究该基因的多态性以及基因与茶的相互作用是否与结核病易感性相关。

方法

在这项病例对照研究中,采用分层抽样方法招募了503例结核病患者和494名健康对照。病例为来自县级疾病预防控制中心新登记的结核病患者,健康对照为长沙市新岸寺社区的常住人口。从研究参与者中获取人口统计学数据和包括饮茶在内的环境暴露信息。我们对该基因的五个潜在功能性SNP位点(rs2295080、rs2024627、rs1057079、rs12137958和rs7525957)进行基因分型,并使用逻辑回归分析评估它们与结核病风险的关联,同时使用边际结构线性优势模型估计基因与环境的相互作用。

结果

发现四个SNP(rs2295080、rs2024627、rs1057079和rs7525957)的频率与结核病易感性相关(P<0.05)。rs2295080位点的GT基因型(OR 1.334)、GG基因型(OR 2.224)以及GT+GG基因型(OR 1.403);rs2024627位点的CT基因型(OR 1.562)和CT+TT基因型(OR 1.578);rs1057079位点的CT基因型(OR 1.597)、CC基因型(OR 2.858)以及CT+CC基因型(OR 1.682);rs7525957位点的CT基因型(OR 1.559)和CT+CC基因型(OR 1.568)在结核病患者中的比例显著高于健康对照。发现该基因的四个SNP(rs2295080、rs2024627、rs1057079和rs7525957)与饮茶之间相互作用的相对超额风险分别为-1.5187(95%CI:-1.9826,-1.0547,P<0.05)、-1.8270(95%CI:-2.3587,-1.2952,P<0.05)、-2.3246(95%CI:-2.9417,-1.7076,P<0.05)和-0.4235(95%CI:-0.7756,-0.0714,P<0.05),提示存在负向相互作用。

结论

该基因(rs2295080、rs2024627、rs1057079和rs7525957)的多态性与结核病易感性相关,且这四个SNP与饮茶之间均存在负向相互作用。