135例儿童过敏性哮喘遗传易患性研究

Study of genetic susceptibility in 135 children with allergic asthma

目的 探讨4种哮喘相关基因位点在河南地区过敏性哮喘患儿中的单核苷酸多态性分布特点及与哮喘易患性关系.方法 采用荧光定量PCR及测序技术检测4种哮喘相关基因位点在135例过敏性哮喘患儿和98名健康对照者中的分布.结果 血管紧张素转换酶（ACE）基因位点纯合子基因型（DD）频率在哮喘组明显高于健康对照组（x2=26.475,P＜0.01）,且D型等位基因频率在哮喘组亦明显高于健康对照组（x2=24.242,P＜0.01）.ADRB2基因位点Argl6Gly基因位点杂合子基因型（AG）频率在哮喘组明显高于健康对照组（x2=22.505,P＜ 0.01）,且等位基因频率在哮喘组亦明显高于健康对照组（x2=6.759,P＜0.01）.结论 ACE基因DD基因型和ADRB2基因AG基因型与河南省儿童过敏性哮喘的遗传易患性有关,可能是儿童过敏性哮喘的危险因素,其他2种哮喘相关基因在本研究中未能得以重复.

Objective To discuss the frequency distribution of single nucleotide polymorphisms （SNP） of four asthma-related gene loci in asthmatic children of Henan,and to investigate its association with genetic susceptibility to childhood asthma and some clinical phenotypes of asthma Methods Fluorogenic quantitative PCR and sequencing technique were employed to detect the frequency distributions of the SNP of the four asthma-related gene loci in 135 asthmatic children and 98 healthy controls.Results The genotype DD of angiotensin-converting enzyme （ACE）had a significantly higher frequency in the asthmatic children than in the healthy controls （x2 =26.475,P ＜ 0.01）,and the frequency of D allele was also significantly higher in the asthmatic children than in the healthy controls （x2 =24.242,P ＜0.01）.The genotype AG of Adrenaline receptor beta 2 subtypes （ADRB2） had a significantly higher frequency in the asthmatic children than in the healthy controls （x2 =22.505,P ＜0.01）,and the frequency of allele was also significantly higher in the asthmatic children than in the healthy controls （x2 =6.759,P ＜ 0.01）.Conclusions Genotype DD of ACE and genotype AG of ADRB2 are related to genetic susceptibility to childhood asthma and may be the risk factor for childhood asthma of Henan.Another two asthma genes involved in this study are not be able to repeat.