CHIA和CHI3L1基因变异与汉族儿童哮喘发病的关系

Genetic variants of CHIA and CHI3L1 gene are associated with childhood asthma of Han Nationality

目的:探讨CHIA和CHI3L1基因的变异与中山市汉族儿童哮喘发病的相关性。方法:采用病例对照研究,利用MassARRAY-IPLEX技术和基质辅助激光解吸电离飞行时间质谱平台(MALDI-TOF-MS)对CHIA基因的rs10494132和CHI3L1的rs946263位点进行基因分型。结果:在中山市汉族儿童中rs10494132检出CC、CT和TT基因型,rs946263检出AA、AG和GG三种基因型。与正常对照相比,哮喘组rs10494132的基因型分布(χ2=8.767,P=0.012)和等位基因分布(χ2=9.749,P=0.002)均具有明显差异,而rs946263基因型分布(χ2=0.472,P=0.790)和等位基因分布(χ2=0.013,P=0.910)均无显著性差异。与CC+CT基因型相比,rs10494132的TT基因型能显著增加哮喘发生的危险性,OR值(95%可信区间)分别为2.093(1.252～3.498)。在哮喘组中,与CC+CT基因型亚组相比,rs10494132的TT基因型亚组IgE浓度(Z=-2.013,P=0.044)明显增高,而嗜酸性粒细胞计数(Z=-0.704,P=0.482)和CRP(Z=-0.488,P=0.626)无明显变化。rs10494132位点的基因型分布在哮喘初次确诊规则治疗前不同病情严重程度分级之间未见明显差异(χ2=0.719,P=0.397)。结论:CHIA基因的rs10494132可能与中山市汉族儿童哮喘的发病有关,TT基因型可能增加血清IgE浓度。

Objective：To investigate the association between single nucleotide polymorphisms（SNPs） of CHIA and CHI3L1 gene and childhood asthma of Han Nationality in Zhongshan city.Methods： A case-control study was performed.MassARRAY-IPLEX technique and MALDI-TOF-MS was used to determine loci rs10494132 of CHIA and rs 946263 of CHI3L1 gene.Results： Genotype CC,CT and TT were detected in rs10494132 and genotype AA and AG and GG in rs946263.Compared with control group,there were significant differences in genotype frequency（χ2=8.767,P=0.012） and allele frequency（χ2=9.749,P=0.002） of rs10494132 in asthma group,but those of rs946263 in asthma group were not significantly different（χ2=0.472,P=0.790;χ2=0.013,P=0.910）,respectively.Compared with genotype CC＋CT,genotype TT of rs10494132 could significantly increase the risk of asthma,which odds ratio（95% confidence interval） were 2.093（1.252-3.498）,respectively.In asthma group,compared with genotype CC＋CT subgroup,serum IgE level（Z=-2.013,P=0.044） in genotype TT subgroup of rs10494132 was significantly increased,but no with eosinophil count（Z=-0.704,P=0.482） and CRP level（Z=-0.488,P=0.626）.There was no significant difference of genotype distribution of rs10494132 in different grades of the severity of initially diagnosed asthma（χ2=0.719,P=0.397）.Conclusion： These suggest that rs10494132 of CHIA may be associated with childhood asthma of Han Nationality in Zhongshan city,and its genotype TT maybe increase the serum IgE level.