ORMDL3基因多态性位点与乌鲁木齐地区维吾尔族人群支气管哮喘的关联分析
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摘要
目的探讨ORMDL3基因多态性位点与乌鲁木齐地区维吾尔族人群支气管哮喘(简称哮喘)的风险关系。方法采用多重单碱基延伸单核苷酸多态性(single nucleotide polymorphism,SNP)分型技术(SNa Pshot)对93例维吾尔族哮喘患者及100例体检健康者ORMDL3基因10个SNP位点进行分型,并比较不同基因型和等位基因与维吾尔族哮喘发病的风险关系。结果健康人与哮喘患者ORMDL3基因rs7216389、rs12603332位点的基因型与等位基因频率差异均有统计学意义(P<0.05)。ORMDL3基因的SNP位点的检测数据均符合Hardy-Weiberg定律(P> 0.05)。结论 ORMDL3基因多态性与维吾尔族哮喘患者发病有直接的风险关系,且ORMDL3基因ss7216389和rs12603332位点可能是维吾尔族人群支气管哮喘的易感位点。
Objective To investigate the association of ORMDL3 gene polymorphism with the risk of bronchial asthma of Uygur people in Urumqi region.Methods Ten single nucleotide polymorphism(SNP) loci of ORMDL3 gene in 93 Uygur patients with bronchial asthma and 100 healthy controls were genotyped by the multiplex SNP(SNa Pshot) technique,and the association of different genotypes and alleles with the risk of asthma of Uygur people was analyzed.Results There were significant differences in genotype and allele frequencies of rs7216389 and rs12603332 loci of ORMDL3 gene between asthma patients and healthy controls(P<0.05).The detection data of SNP loci of ORMDL3 gene were all in accordance with Hardy-Weiberg law(P>0.05).Conclusion The polymorphism of ORMDL3 gene is directly associated with the risk of asthma in Uygur people,and the rs7216389 and rs12603332 loci of ORMDL3 gene may be the susceptible sites of bronchial asthma in Uygur people.
Objective To investigate the association of ORMDL3 gene polymorphism with the risk of bronchial asthma of Uygur people in Urumqi region.Methods Ten single nucleotide polymorphism(SNP) loci of ORMDL3 gene in 93 Uygur patients with bronchial asthma and 100 healthy controls were genotyped by the multiplex SNP(SNa Pshot) technique,and the association of different genotypes and alleles with the risk of asthma of Uygur people was analyzed.Results There were significant differences in genotype and allele frequencies of rs7216389 and rs12603332 loci of ORMDL3 gene between asthma patients and healthy controls(P<0.05).The detection data of SNP loci of ORMDL3 gene were all in accordance with Hardy-Weiberg law(P>0.05).Conclusion The polymorphism of ORMDL3 gene is directly associated with the risk of asthma in Uygur people,and the rs7216389 and rs12603332 loci of ORMDL3 gene may be the susceptible sites of bronchial asthma in Uygur people.
引文
[1]周广花,张季红,徐佩茹.新疆维吾尔族哮喘儿童IL-13基因Arg130Gln多态性及其与血清IL-13水平的关系[J].新疆医科大学学报,2016,39(5):622-626.
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[15]Canterorecasens G,Fandos C,Rubiomoscardo F,et al.The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress[J].Hum Mol Genet,2010,19(1):111.
[16]Ferreira MA,Mcrae AF,Medland SE,et al.Association between ORMDL3,IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia[J].Eur J Hum Genet,2011,19(4):458-464.
[17]王冰洁.ORMDL3单核苷酸多态性与儿童哮喘危险因素之间交互作用对儿童哮喘发病的影响[D].广州:南方医科大学,2015.
[18]Zhao YF,Luo YM,Xiong W,et al.Genetic variation in ORMDL3gene may contribute to the risk of asthma:a meta-analysis[J].Hum Immunol,2014,75(9):960.
[2]罗建江,张茜,马红霞.新疆干燥低海拔地区维吾尔族哮喘患者中医分型特点及与细胞因子的相关性研究[J].现代中西医结合杂志,2016,25(18):1967-1969.
[3]Halapi E,Gudbjartsson DF,Jonsdottir GM,et al.A sequence variant on 17q21 is associated with age at onset and severity of asthma[J].Eur J Hum Genet,2010,18(8):902.
[4]Das S,Miller M,Broide DH.Chromosome 17q21 Genes ORMDL3and GSDMB in Asthma and Immune Diseases[J].Adv Immunol,2017,135:1-52.
[5]Holloway JW,Yang LA,Holgate ST.Genetics of allergic disease[J].J Allergy clin Immunol,2010,125(2 suppl 2):s81-s94.
[6]Miller M,Rosenthal P,Beppu A,et al.ORMDL3 transgenic mice have increased airway remodeling and airway responsiveness characteristic of asthma[J].J Immunol,2014,192(8):3475-3487.
[7]中华医学会呼吸病学分会哮喘学组.支气管哮喘防治指南(2016年版)[J].中华结核和呼吸杂志,2016,39(9):675-679.
[8]Bugiani M,Carosso A,Migliore E,et al.Allergic rhinitis and asthma comorbidity in a survey of young adults in Italy[J].Allergy,2015,60(2):165-170.
[9]Galanter J,Choudhry S,Eng C,et al.ORMDL3 gene is associated with asthma in three ethnically diverse populations[J].Am J Respir Crit Care Med,2008,177(11):1194.
[10]Zhao CN.The association of GSDMB and ORMDL3 gene polymorphisms with asthma:a meta-analysis.[J].Allergy Asthma Immunol Res,2015,7(2):175-185.
[11]Sabar MF,Shahid M,Bano I,et al.rs12603332 is associated with male asthma patients specifically in urban areas of Lahore,Pakistan[J].J Asthma,2017,54(9):887-892.
[12]Shi H,Cheng D,Yi L,et al.Association between ORMDL3 polymorphism and susceptibility to asthma:a meta-analysis[J].Int JClin Exp Med,2015,8(3):3173.
[13]石海,崔丽英.内蒙古汉族哮喘与ORMDL3基因rs7216389位点多态性的研究[J].内蒙古医学杂志,2014,46(11):1281-1286.
[14]黄汉琮.ORMDL3基因rs7216389位点多态性与哮喘相关性研究[D].南昌:南昌大学,2011.
[15]Canterorecasens G,Fandos C,Rubiomoscardo F,et al.The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress[J].Hum Mol Genet,2010,19(1):111.
[16]Ferreira MA,Mcrae AF,Medland SE,et al.Association between ORMDL3,IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia[J].Eur J Hum Genet,2011,19(4):458-464.
[17]王冰洁.ORMDL3单核苷酸多态性与儿童哮喘危险因素之间交互作用对儿童哮喘发病的影响[D].广州:南方医科大学,2015.
[18]Zhao YF,Luo YM,Xiong W,et al.Genetic variation in ORMDL3gene may contribute to the risk of asthma:a meta-analysis[J].Hum Immunol,2014,75(9):960.