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. 2022 Jun 28:10:899045.
doi: 10.3389/fpubh.2022.899045. eCollection 2022.

Novel Functional eQTL-SNPs Associated With Susceptibility to Mycoplasma pneumoniae Pneumonia in Children

Yang Dong  1 , Yanmin Gao  2 , Cheng Luo  3 , Nengshun Wu  2 , Zhounan Cheng  1 , Anni Qiu  1 , Yan Zhou  1 , Wendi Zhang  1 , Minjie Chu  1 , Qing Chang  2
Affiliations

Novel Functional eQTL-SNPs Associated With Susceptibility to Mycoplasma pneumoniae Pneumonia in Children

Yang Dong et al. Front Public Health. .

Abstract

Background: The 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.

Methods: First, 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.

Results: We 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).

Conclusion: Functional 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.

Keywords: ACE; CD276; Mycoplasma pneumoniae Pneumonia; single-nucleotide polymorphisms; susceptibility.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Flowchart of the study design. eQTL, expression quantitative trait locus; SNP, single-nucleotide polymorphism; LD, linkage disequilibrium; MAF, minor allele frequency.
Figure 2
Figure 2
The eQTL direction of the seven eQTL-SNPs in the GTEx database. eQTL, expression quantitative trait locus; SNP, single-nucleotide polymorphism.
Figure 3
Figure 3
Association between the number of risk alleles of positive SNPs and the risk of development of MPP.
Figure 4
Figure 4
Comparison of plasma protein levels of CD276 and ACE between MPP cases and controls measured by ELISA. (A) Plasma protein level of CD276 was significantly higher in children with MPP than in healthy controls (P < 0.001). (B) Plasma protein level of ACE increased considerably in children with MPP compared with healthy controls (P = 0.001). ELISA, enzyme-linked immunosorbent assay; MPP, Mycoplasma pneumoniae Pneumonia.
Figure 5
Figure 5
ROC curves of CD276, ACE and their combined levels in children with MPP and healthy controls. ROC, receiver operating characteristic; MPP, Mycoplasma pneumoniae Pneumonia.
See this image and copyright information in PMC

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