期刊论文详细信息
Frontiers in Public Health
Novel Functional eQTL-SNPs Associated With Susceptibility to Mycoplasma pneumoniae Pneumonia in Children
Yang Dong1  Anni Qiu1  Zhounan Cheng1  Minjie Chu1  Yan Zhou1  Wendi Zhang1  Cheng Luo2  Qing Chang3  Yanmin Gao3  Nengshun Wu3 
[1] Department of Epidemiology, School of Public Health, Nantong University, Nantong, China;Department of Laboratory Medicine, No. 8 People's Hospital of Wuxi, Wuxi, China;Department of Pediatrics, No. 8 People's Hospital of Wuxi, Wuxi, China;
关键词: ACE;    CD276;    Mycoplasma pneumoniae Pneumonia;    single-nucleotide polymorphisms;    susceptibility;   
DOI  :  10.3389/fpubh.2022.899045
来源: DOAJ
【 摘 要 】

BackgroundThe functional causal single-nucleotide polymorphisms (SNPs) associated with susceptibility to Mycoplasma pneumoniae Pneumonia (MPP) have scarcely been identified. In this study, we aimed to analyze the association between the functional expression quantitative trait locus (eQTL)-SNPs and the risk of MPP.MethodsFirst, we identified reported genes associated with MPP from the human disease database, MalaCards. After investigating multiple databases, we systematically selected seven functional eQTL-SNPs (rs2070874, rs360720, rs8032531, rs4316, rs4353, rs7258241, and rs2250656). Finally, the selected eQTL-SNPs were genotyped using the TaqMan genotyping technology, and compared between 100 children with MPP and 178 healthy controls.ResultsWe found that three eQTL-SNPs (rs8032531 in CD276 and rs4316 and rs4353 in ACE) were significantly associated with susceptibility to MPP. Joint analysis of the three eQTL-SNPs revealed that the risk of MPP increased with an increase in the number of risk alleles present. Plasma protein expression levels of CD276 and ACE were distinctively higher in children with MPP than in healthy children (CD276: P < 0.001; ACE: P = 0.001).ConclusionFunctional eQTL-SNPs in CD276 and ACE may affect the susceptibility to MPP. The risk of developing MPP is higher in patients harboring a greater number of unfavorable alleles of the aforementioned SNPs.

【 授权许可】

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