ADAM33基因多态性与蒙古族支气管哮喘的相关性

Association between polymorphism of ADAM33 gene and bronchial asthma in Mongolian population

目的探讨蒙古族人群ADAM33基因T1、T2、V4、S2位点不同基因型及等位基因频率的分布及ADAM33基因多态性与支气管哮喘的关系。方法选用聚合酶链反应一限制性片段长度多态性（PCR—RFLP）方法对选择2014年1月至2015年12月就诊于内蒙古医科大学附属医院门诊或住院部蒙古族哮喘患者180例进行ADAM33基因多态性的检测，与186例健康蒙古族进行比较，筛选有意义基因。根据病情将哮喘组分为轻、中、重度组，其中轻度组83例，中度组47例、重度组50例，比较不同程度组基因型分布差异，并对各基因型的FEV1、嗜酸性粒细胞、IgE进行比较，分析其相关性。结果ADAM33基因T1位点AA、AG基因型，在哮喘组与对照组比较差异有统计学意义（x^2分别为8．810、8．294，均P〈0．05），OR值为1．983、0．500，G等位基因OR值为0．580；S2位点CC基因型，两组比较差异有统计学意义（x^2=4．277、P〈0．05），等位基因G的D尺值为1．423；V4位点GC、GG基因型，两组比较差异有统计学意义（x^2分别为7．880、10．313，均P〈0．05），OR值为0．459、2．130，等位基因G的OR值为1．496。V4位点各基因型在轻、中、重度组分布频率差异有统计学意义（x^2=16．049，P〈0．05），且对各基因型的FEV1、IgE进行比较，差异有统计学意义（P〈0．05）。T2位点各基因型在哮喘组和对照组中分布差异无统计学意义（x^2分别为1．218、0．248、1．287，均P〉0．05）。结论ADAM33基因T1、V4、s2位点多态性在蒙古族哮喘人群中可能发挥作用，而T2位点多态性可能与蒙古族哮喘人群无关。V4位点基因型多态性可能与哮喘严重程度有关。

Objective To investigate the different genotype and allele frequency distribution of ADAM33 gene T1, T2, V4, S2 sites Mongolian population, and discuss the relationship between ADAM33 gene polymorphism and bronchial asthma. Methods From January 2014 to December 2015, a total of 180 cases of Mongolian patients with asthma were detected, compared with 186 cases of healthy Mongolian as controled and screening significant genes~ Selected restriction fragment length polymorphism （PCR-RFLP） method to detected ADAM33 gene polymorphism. According to condition ,the asthma group was divided into mild（ n = 83 ）, medium group（ n = 47 ）and severe group（ n = 50）. The distribution difference of different genotype and every genotype of V4 FEV1, eosinophils, IgE comparison were compared , and analysis their correlation. Results In ADAM33 , the distribution of TI sites （ AA and AG genotypes ） had statistical significance compared asthma group with control group （ x^2 = 8. 810,8. 294, P 〈 0. 05, OR = 1. 983,0. 500） ; The OR value of G allele was 0. 580. The distribution of $2 site （CC genotype） had statistical significance （x^2 = 4. 277, P 〈 0. 05 ）, the OR value of G allele was 1. 423. the distribution of V4 sites （ GC and GG genotypes） had statistical significance between the two groups （x^2 = 7. 880,10. 313, P 〈 0. 05 ）, OR value was 0. 459,2. 130, G allele OR value was 1. 496. The distribution frequency difference of each genotype in V4 sites in mild, medium and severe group was statistically significant （ x^2 = 16. 049, P 〈 0. 05 ）, and compared various genotypes of FEV1, IgE, the difference was statistically significant （ P 〈 0. 05 ）, for each genotype of T2 site in asthma group and the control group there was no statistically significant in the distribution （x^2 = 1. 218,0. 248,1. 287, P 〉 0. 05 ）. Conclusions T1, V4, S2 locus polymorphism of ADAM55 gene may play a role in the Mongolian asthma population, and T2 locus polymorphism may has no relationship with Mongolian asthma patients. And the genotype polymorphism of V4 sites may be associated with asthma severity.