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GSDMB/ORMDL3基因CpG序列多态性与中国汉族人哮喘相关的临床研究 被引量:2

Risk of Asthma is Associated with CpG-site Polymorphisms at the GSDMB/ORMDL3 Among Han Population in China
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摘要 目的分析汉族人GSDMB/ORMDL3基因Cp G序列[胞嘧啶(C)-磷酸(p)-鸟嘌呤(G)]单核苷酸多态性位点(SNP)与支气管哮喘的相关性。方法运用SNa Pshot技术检测哮喘患者(2014年1月—2016年1月在上海市浦东新区人民医院呼吸科就诊的支气管哮喘患者(n=170例)和健康人(n=172例)GSDMB/OMDL3基因Cp G序列的3个SNP位点,rs7216389、rs4065275和rs12603332,比较组间基因型和等位基因频率的差异。结果 GSDMB基因rs7216389存在C-T多态性,ORMDL3基因rs4065275存在A-G多态性,ORMDL3基因rs12603332存在T-C多态性。Rs7216389 TT TC CC基因型在哮喘组频率分别为59.4%、36.5%、4.1%,对照组45.9%、41.9%、12.2%,T C等位基因在哮喘组频率分别为77.6%、22.4%,对照组66.9%、33.1%。Rs4065275 GG GA AA基因型在哮喘组频率分别为57.1%、32.4%、10.6%,对照组41.9%、38.4%、19.8%,G A等位基因在哮喘组频率分别为73.2%、26.8%,对照组61.0%、9.0%。Rs12603332 CC CT TT基因型在哮喘组频率分别为61.2%、34.1%、4.7%,对照组50.6%、38.4%、11.0%,C T等位基因在哮喘组频率分别为78.2%、21.8%,对照组69.8%、30.2%。这3个SNP位点基因型和等位基因频率在哮喘组和对照组的差异有统计学意义(P<0.05)。结论 Rs7216389C-T,rs4065275A-G,rs12603332T-C位点变异与中国汉族人哮喘明显相关。 Objective To investigate the relationship between CpG-site polymorphisms at the GSDMB/ORMDL3 with allergic asthma in a population of Hans in China. Methods A tota of 170 asthmapatients were recruitedfrom January 2014 to January 2016 in People's Hospital of Shanghai Pudong Districtand 172 healthy controls recruited from Hans population in china were genotyped to detect CpG-site single nucleotide polymorphism(SNP) of GSDMB/ORMDL 3 genes(rs7216389,rs4065275 and rs12603332) using SNaPshot technology. Results There was SNPs in GSDMB gene rs7216389 C-T,ORMDL3 geners4065275 A-Gand rs12603332T-C.Rs7216389 TT TC CC genotype frequency in asthma were 59.4%,36.5%,4.1%.in control were 45.9%,41.9%,12.2%.T C allele frequency in asthma were 77.6%,22.4%.in control were 66.9%,33.1%.Rs4065275 GG GA AA genotype frequency in asthma were57.1%,32.4%,10.6%.in control were41.9%,38.4%,19.8%.G A allele frequency in asthma were 73.2%,26.8%.in control were 61.0%,39.0%.Rs12603332 CC CT TT genotype frequency in asthma were61.2%,34.1%,4.7%.in control were50.6%,38.4%,11.0%.C T allele frequency in asthma were78.2%,21.8%.in control were69.8%,30.2%.Genotype frequency and allele frequency of the three SNPs were significantly different(P〈0.05) in asthma group compared with control group. Conclusion Our results show that rs7216389C-T,rs4794820 A-G and12603332T-C variations are associated with higher asthma risk among Han population in China.
出处 《中外医疗》 2017年第16期101-104,共4页 China & Foreign Medical Treatment
基金 [基金项目]上海市浦东新区卫生系统领先人才培养(PWRI2014-04)
关键词 GSDMB/OMDL3 单核苷酸多态性 支气管哮喘 GSDMB/ORMDL3 Single nucleotide polymorphism(SNP) Asthma
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