One panel with four single nucleotide polymorphisms for Chinese children with asthma: Integrating public data and whole exome sequencing

哮喘 单核苷酸多态性 SNP公司 医学 外显子组测序 基因分型 遗传学 SNP基因分型 外显子组 基因型 免疫学 基因 生物 突变
作者
Ying Zhou,Lin Li,Dongmei Zhou,Zhiwei Yu,Yaning Ren,Yuanfen Liao,Cunyin Yuan,Yong Yin,Xiaohong Gu,Yubao Cui
出处
期刊:Pediatric Allergy and Immunology [Wiley]
卷期号:35 (6) 被引量:2
标识
DOI:10.1111/pai.14182
摘要

Abstract Background Polymorphisms in susceptibility genes are a major risk factor for the development of asthma. Understanding these genetic variants helps elucidate asthma's pathogenesis, predict its onset, expedite antiasthma medication development, and achieve precise targeted individualized treatment. This study developed a test kit based on susceptibility genes for predicting asthma in Chinese children. Methods The present study constructed a VariantPro Targeted Library Preparation System with 72 single nucleotide polymorphism (SNP) loci associated with asthma from the ClinVar, OMIM, and SNPedia databases. These SNP loci were detected in the peripheral blood of 499 children with asthma and 500 healthy children. Significant differences were discovered for seven SNP loci. Simultaneously, whole exome sequencing of 46 children with asthma and 50 healthy children identified eight SNP loci with significant differences. The 15 SNP loci identified from Chinese children with asthma were validated in an independent population of 97 children with asthma and 93 healthy children by conducting multiplex polymerase chain reaction (PCR)–next‐generation sequencing genotyping. Results Four loci (rs12422149, rs7216389, rs4065275, and rs41453444) were identified, and a single‐tube multifluorescent qPCR (real‐time quantitative PCR) test kit was developed using these four SNP loci. The kit was tested on 269 children with asthma and 724 children with bronchopneumonia. Conclusions We identified four loci as susceptibility genes and developed a quantitative PCR test kit for predicting asthma development in Chinese children.
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