维吾尔族哮喘儿童ADAM33基因多态性与TGF-β/ERK通路相关性研究

Association between ADAM33 gene polymorphism and TGF-β/ERK signal pathway in Uygur asthmatic children

目的:研究乌鲁木齐市维吾尔族哮喘儿童ADAM33基因多态性与TGF-β/ERK通路相关性。方法:选取乌鲁木齐地区3~14岁维吾尔族哮喘患儿74例为病例组,同一时期选择维吾尔族健康儿童48人为对照组,对ADAM33基因V4位点实行单核苷酸多态性分型,同时检测样本血清IgE、TGF-β1、ERK水平。结果:(1)V4位点的3种基因型频率分布在病例组和对照组之间的差异有统计学意义(χ^(2)=6.322,P<0.05),且两组的等位基因频率之间的差异有统计学意义(χ^(2)=6.039,P<0.05)。(2)病例组IgE水平较对照组明显增高,差异有统计学意义(t=3.912,P<0.001);病例组TGF-β1水平明显增高,差异有统计学意义(t=7.106,P<0.001);病例组ERK水平明显增高,差异有统计学意义(t=5.379,P<0.001)。(3)病例组TGF-β1水平与ERK水平呈正相关(r=0.439,P<0.01);V4位点与ERK呈正相关(r=0.238,P=0.041);V4位点与TGF-β1无相关性(r=0.191,P=0.103)。结论:(1)ADAM33的V4基因为维吾尔族哮喘儿童的易感基因;(2)维吾尔族哮喘儿童ADAM33的V4基因可能与TGF-β/ERK通路存在关联。

Objective:To study the association between ADAM33 gene polymorphism and TGF-β/ERK signal pathway in Uygur asthmatic children in Urumqi.Methods:74 asthmatic Uighur children(3-14 years old)were selected as case group.At the same time,48 healthy children of the same ethnic group were set as the control group.PCR polymerase chain reaction was used for V4 ADAM33 gene loci single nucleotide polymorphism.ELISA method was used to detect serum IgE,TGF-β1,ERK level.Finally,correlation analysis of V4 locus,TGF-1 and ERK in the case group was conducted.Results:(1)Three genotype frequency distribution in V4 locus was statistically significant difference between the case and the control group(χ^(2)=6.322,P<0.05),the allele frequency difference between the two groups was statistically significant(χ^(2)=6.039,P<0.05).(2)The serum IgE level of the case group was significantly higher than that of the control group(t=3.912,P<0.001).Serum TGF-β1 level in the case group was significantly increased,and the difference was statistically significant(t=7.106,P<0.001).Serum ERK level in the case group was significantly increased,and the difference was statistically significant(t=5.379,P<0.001).(3)Serum TGF-β1 level in the case group was positively correlated with ERK level(r=0.439,P<0.01).The V4 locus was significantly positively correlated with ERK(r=0.238,P=0.041).The V4 site was not significantly correlated with TGF-β1(r=0.191,P=0.103).Conclusion:(1)ADAM33’s V4 gene is the susceptibility gene of Uygur children with asthma;(2)ADAM33 gene polymorphism is associated with TGF-β/ERK signal transduction pathway in Uygur asthmatic children in Urumqi.