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Published on: June 4, 2017
Gene Polymorphisms Associated with Treatment Response of Asthma in Chinese Children
Lili Zhu1, Xinyi Jiang2, Changchang Li1
1Department of Pediatric Respiratory Medicine, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, 325027, People's Republic of China.
Objective:
To investigate the potential associations between therapeutically relevant single nucleotide polymorphisms (SNPs) with clinical characteristics and medication response of asthma in Chinese children.
Methods:
This prospective observational study was conducted at the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University from August 2021 to July 2022. Patients diagnosed with asthma and age-matched healthy individuals were recruited. Genotyping of 55 SNPs was performed using the Sequenom Mass Array platform. Both the association of 55 SNPs with clinical characteristics of asthma and the efficacy of budesonide/formoterol were analyzed.
Results:
A total of 412 asthma patients and 262 age-matched healthy were recruited. The Minor Allele Frequency of SNPs differs markedly from that observed in European, American, and African populations but closely in the Asian populations. Comparing genotype and allele frequencies revealed that ORMDL3-rs2872507 (AA) and ZNF432-rs3752120 (TT) were significantly more frequent in the asthma group than in the control group. ZNF432-rs3752120 and ORMDL3-rs2872507 were further analyzed, stratified by clinical features and laboratory indicators. Atopy was significantly more common in ZNF432-rs3752120 TT genotype carriers compared to CC and CT genotypes. Additionally, the demand for inhalation device use was higher in CT carriers compared to those with CC and TT genotypes. However, no significant differences in asthma clinical characteristics were observed among ORMDL3-rs2872507 genotypes. Besides, eight SNPs were confirmed to be associated with the response of inhaling Budesonide/Formoterol dry powder 80/4.5.
Conclusion:
This study revealed that the ORMDL3-rs2872507 AA genotype and the ZNF432-rs3752120 TT genotype might be susceptible genotypes in Chinese children with asthma. rs1042713, rs2305089, rs2540487, rs2712807, rs28364072, rs320995, rs4980524, and rs730012 were identified as potentially associated with the efficacy of Budesonide/Formoterol (80/4.5) inhalation therapy in a cohort of children with asthma from southern Zhejiang, China.
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