哮喘易感基因ORMDL3单核苷酸多态性位点rs7216389与中国人群特应性皮炎及其临床表型的相关性

The correlation between locus rs7216389 in asthma candidate gene ORMDL3 and atopic dermatitis and related phenotypes in Chinese population

目的探讨哮喘易感基因ORMDL3的单核苷酸多态性位点rs7216389与中国人群特应性皮炎(AD)及其临床表型的相关性。方法采用聚合酶链式反应-限制性片段长度多态性的方法,对592例AD患者(AD组)和509例健康人群(对照组)的ORMDL3多态位点rs7216389进行基因分型和分析。结果两组rs7216389的基因型频率和等位基因型频率均无显著差异。女性群体中,rs7216389基因型分布在两组之间有显著差异(P<0.05),与AD诊断显著相关。rs7216389与AD同时伴发哮喘和鼻炎显著相关,基因型CC在AD同时伴发哮喘和鼻炎病例中的频率显著增高(P<0.05)。rs7216389与AD发病年龄显著相关,基因型TT的AD患者发病年龄显著低于基因型TC或CC的AD患者(P<0.05)。结论哮喘易感基因ORMDL3的多态位点rs7216389与中国人群,尤其是女性AD及其临床表型相关。基因型CC可能是AD同时伴发哮喘和鼻炎的风险因素,基因型TT则可能与AD早期发病相关。

Objective To investigate the correlation between locus rs7216389 in asthma candidate gene ORMDL3 and atopic dermatitis（AD） or AD-related phenotypes in Chinese population. Methods The single nucleotide polymorphism（SNP） rs7216389 in a Chinese case-control cohort consisting of 592 AD patients（group AD） and 509 healthy subjects（group C） was genotyped using polymerase chain reaction- restriction fragment length polymorphism assay. Results No significant difference was observed between group AD and group C based on genotype frequency and allele frequency of rs7216389. In female group, distribution of genotypes between 2 groups was different （P〈0. 05） and AD diagnosis was significantly associated with rs7216389. The rs7216389 was significantly associated with AD with concomitant asthma and allergic rhinitis, and the frequency of genotype CC was higher in these patients （P〈0. 05）. In addition, rs7216389 was significantly associated with onset age of disease, and the onset age in AD patients with genotype TT was earlier than that in those with other genotypes （P〈0. 05 ）. Conclusion The SNP rs7216389 in asthma candidate gene ORMDL3 is associated with AD and related phenotypes in Chinese population, especially in female. The genotype CC may be the risk factor for AD with concomitant asthma and allergic rhinitis, and the genotype TT may be related with early-onset of AD.