Wu Ziling, Chen Qiaobin, Lin CaiChun, Huang HongBiao, Chen Lang
Provincial Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.
Ningde People's Hospital, Ningde, China.
Front Pediatr. 2025 May 9;13:1524055. doi: 10.3389/fped.2025.1524055. eCollection 2025.
Discuss the correlation between single nucleotide polymorphisms (SNPs) of the Glutathione s-transferase Pi-1 (GSTP1), Catalase (CAT), Heme oxygenase-1 (HMOX1), and Homo sapiens epoxide hydrolase 1 (EPHX1) genes and the risk of childhood asthma in Fuzhou.
Next generation sequencing (GS) was employed to conduct whole-exome sequencing (WES) on 50 asthmatic children and 50 healthy children. Genetic models for the GSTP1 gene rs1695, rs4891, HMOX1 gene rs2071747, rs17878790, CAT gene rs7943316, rs1049982, rs769217, and EPHX1 gene rs2234922, rs41266231, rs1051740 sites were constructed. Binary logistic regression, linkage disequilibrium analysis, haplotype analysis, and interaction analysis were used to study the correlation between the 10 SNPs of GSTP1, CAT, HMOX1, and EPHX1 genes and the risk of asthma in children in the Fuzhou region.
The rs1695 A>G variant increased the risk of asthma in the heterozygous, dominant, and allele models. The rs4891 T>C variant increased the risk of asthma in the heterozygous, dominant, and allele models. The rs7943316 A>T variant increased the risk of asthma in the homozygous, recessive, and allele models. The rs769217 C>T variant decreased the risk of asthma in the homozygous, recessive, and allele models. Strong linkage disequilibrium between the GSTP1 gene rs1695 and rs4891, and the CAT gene rs7943316, rs1049982, and rs769217. The GC haplotype composed of GSTP1 gene rs1695 and rs4891 may pose a risk for childhood asthma [ = 0.025, OR = 2.12 (1.09-4.10)], while the AT haplotype may be protective [ = 0.025, OR = 0.47 (0.24-0.92)]. The ATT haplotype composed of CAT gene rs7943316, rs1049982, and rs769217 may be protective against childhood asthma [ = 0.006, OR = 0.45 (0.25-0.79)]. Potential synergistic interaction between the GSTP1 gene rs1695, CAT gene rs7943316, and EPHX1 gene rs41266231. The combination of GSTP1 gene rs1695 and CAT gene rs7943316 formed the best predictive model for assessing the risk of childhood asthma in the Fuzhou region.
The genotype GC, composed of GSTP1 gene rs1695 and rs4891, may represent a risk genotype for childhood asthma, whereas genotype AT may represent a protective genotype for childhood asthma. The genotype ATT, composed of CAT gene rs7943316, rs1049982, and rs769217, may represent a protective genotype for childhood asthma. The combination of GSTP1 gene rs1695 and CAT gene rs7943316 constitutes the optimal model for predicting the risk of childhood asthma in the Fuzhou region.
探讨谷胱甘肽S-转移酶Pi-1（GSTP1）、过氧化氢酶（CAT）、血红素加氧酶-1（HMOX1）和人环氧化物水解酶1（EPHX1）基因的单核苷酸多态性（SNP）与福州儿童哮喘风险之间的相关性。
采用二代测序（GS）技术对50例哮喘儿童和50例健康儿童进行全外显子测序（WES）。构建GSTP1基因rs1695、rs4891，HMOX1基因rs2071747、rs17878790，CAT基因rs7943316、rs1049982、rs769217，以及EPHX1基因rs2234922、rs41266231、rs1051740位点的遗传模型。采用二元逻辑回归、连锁不平衡分析、单倍型分析和交互作用分析，研究GSTP1、CAT、HMOX1和EPHX1基因的10个SNP与福州地区儿童哮喘风险之间的相关性。
rs1695 A>G变异在杂合子、显性和等位基因模型中增加了哮喘风险。rs4891 T>C变异在杂合子、显性和等位基因模型中增加了哮喘风险。rs7943316 A>T变异在纯合子、隐性和等位基因模型中增加了哮喘风险。rs769217 C>T变异在纯合子、隐性和等位基因模型中降低了哮喘风险。GSTP1基因rs1695与rs4891之间，以及CAT基因rs7943316、rs1049982和rs769217之间存在强连锁不平衡。由GSTP1基因rs169�和rs4891组成的GC单倍型可能增加儿童哮喘风险[P=0.025，OR=2.12（1.09-4.10）]，而AT单倍型可能具有保护作用[P=0.025，OR=0.47（0.24-0.92）]。由CAT基因rs7943316、rs1049982和rs769217组成的ATT单倍型可能对儿童哮喘具有保护作用[P=0.006，OR=0.45（0.25-0.79）]。GSTP1基因rs1695、CAT基因rs7943316和EPHX1基因rs41266231之间存在潜在的协同相互作用。GSTP1基因rs1695和CAT基因rs7943316的组合构成了评估福州地区儿童哮喘风险的最佳预测模型。
由GSTP1基因rs1695和rs4891组成的基因型GC可能是儿童哮喘的风险基因型，而基因型AT可能是儿童哮喘的保护基因型。由CAT基因rs7943316、rs1049982和rs769217组成的基因型ATT可能是儿童哮喘的保护基因型。GSTP1基因rs1695和CAT基因rs7943316的组合构成了预测福州地区儿童哮喘风险的最佳模型。
