中国汉族人群中kelch样ECH相关蛋白1（人类）三个单核苷酸多态性位点与结核病的关联
Association of Three SNPs Loci of Kelch-Like-ECH-Associated Protein 1 (Human) with Tuberculosis in Chinese Han Population.
作者信息
Wu Shouquan, Ding Xiaojuan, Yang Qianlan, Wang Minggui, He Jian-Qing
机构信息
Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, People's Republic of China.
出版信息
Int J Gen Med. 2022 Aug 1;15:6365-6372. doi: 10.2147/IJGM.S373555. eCollection 2022.
PURPOSE
Progression from latent tuberculosis infection (LTBI) to pulmonary TB (PTB) was associated with genetic polymorphisms, but there were limited genetic polymorphism data on LTBI and PTB. We aimed at examining the association of KEAP1 gene polymorphisms with PTB and LTBI.
PATIENTS AND METHODS
PTB patients and close contacts of PTB patients were recruited from West China Hospital of Sichuan University. After obtaining the patient's consent, we draw 2-5mL of blood from the patient's peripheral vein. Tag-SNPs of KEAP1 were chosen according to previous studies. The genotyping was done by improved multiplex ligase detection reaction (iMLDR). We used logistic regression to assess the association of SNPs with LTBI/PTB, with sex and age as covariates.
RESULTS
A total of 209 PTB patients, 201 LTBI, and 204 HCS were included in the present study. Three Tag-SNPs were included in this study. Significant association was found for KEAP1 rs1048290 between LTBI and HCS. Compared with the KEAP1 rs1048290 CC genotype, genotype GC had an 38% decreased risk for development LTBI (P = 0.043, OR = 0.62, 95% CI: 0.039-0.98). We also found that SNPs in KEAP1 were significantly related to PTB compared to LTBI. Compared with the rs11545829G allele, allele A had an 30% decreased risk for development PTB (P = 0.034, OR = 0.70, 95% CI: 0.51-0.97). We also found the rs11668429 polymorphism was related to PTB. Compared with TT, GT had a significantly increased risk of LTBI developing into PTB (P = 0.041, OR = 1.68, 95% CI: 1.02-2.77).
CONCLUSION
Our study suggested that KEAP1 polymorphisms were significantly related to susceptibility to PTB and LTBI subjects.
目的
潜伏性结核感染（LTBI）进展为肺结核（PTB）与基因多态性有关，但关于LTBI和PTB的基因多态性数据有限。我们旨在研究KEAP1基因多态性与PTB和LTBI的关联。
患者与方法
从四川大学华西医院招募PTB患者及PTB患者的密切接触者。获得患者同意后，从患者外周静脉抽取2 - 5mL血液。根据先前研究选择KEAP1的标签单核苷酸多态性（Tag - SNPs）。采用改进的多重连接酶检测反应（iMLDR）进行基因分型。我们使用逻辑回归评估单核苷酸多态性与LTBI/PTB的关联，并将性别和年龄作为协变量。
结果
本研究共纳入209例PTB患者、201例LTBI患者和204例健康对照者（HCS）。本研究纳入了三个标签单核苷酸多态性。发现KEAP1 rs1048290在LTBI和HCS之间存在显著关联。与KEAP1 rs1048290 CC基因型相比，GC基因型发生LTBI的风险降低38%（P = 0.043，OR = 0.62，95% CI：0.039 - 0.98）。我们还发现，与LTBI相比，KEAP1中的单核苷酸多态性与PTB显著相关。与rs11545829G等位基因相比，A等位基因发生PTB的风险降低30%（P = 0.034，OR = 0.70，95% CI：0.51 - 0.97）。我们还发现rs11668429多态性与PTB有关。与TT相比，GT使LTBI发展为PTB的风险显著增加（P = 0.041，OR = 1.68，95% CI：1.02 - 2.77）。
结论
我们的研究表明，KEAP1多态性与PTB易感性及LTBI个体显著相关。
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