关键词: 类黏蛋白1样蛋白质3, 不平衡检验分析, 单体型相对风险分析, 喘息, 关联分析

Abstract: Objective To investigate the genetic relationship between orosomucoid like 3 (ORMDL3)gene polymorphism and wheezing in preschool children by association analysis based on nuclear family,so as to provide evidence for the prevention of wheezing. Methods A total of 30 preschool wheezing children with positive result of asthma predictive index (API) and 60 biological parents were selected.The poly morphism of genetic loci gene rs7216389 and rs7216558 loci in each group were analyzed by Sanger sequencing.Then rs7216389 and rs7216558 were analyzed by transmission disequilibrium test (TDT) based on family and haplotype relative risk (HRR) for each group with the FBAT 2.0.4 software. Results The rs7216389 and rs7216558 loci of ORMDL3 gene showed exactly the same genotype.TDT analysis showed that under the additive model and stealth model,the genetic marker loci rs7216389 and rs7216558 were associated with preschool wheezing,and allele T was over-transmitted,which was a risk factor for wheezing (Z=2.268,2.250,P<0.05). Under the dominant model,allele C were associated with preschool wheezing (Z=-2.250, P<0.05),which was protection factor for wheezing.HRR analysis showed that under the additive model,the T/T of rs7216389-rs7216558 composition were associated with preschool wheezing (Z=2.000, P<0.05),while the C/C single-fold had a protective effect (Z=-2.000, P<0.05). Conclusion ORMDL3 gene is associated with the occurrence of wheezing in preschool children,and genetic polymorphism of ORMDL3 gene plays an important role in the pathogenesis of wheezing.

Key words: orosomucoid like 3, transmission disequilibrium test, haplotype relative risk, wheezing, association analysis