王海燕++++++涂林修++++++黄艳丽++++++陈凯宇++++++冯碧红

[摘要] 目的 探讨宁波地区儿童哮喘与ORMDL3基因多态性的关系。 方法 采用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）技术对150例哮喘患儿（哮喘组）ORMDL3基因多态性进行观察，并与150名正常对照儿童（对照组）进行对比。 结果 哮喘组和对照组ORMDL3基因rs11650680位点3种基因型（CC、CT、TT）分布频率分别为68%、24%、8%和57%、25%、18%，差异有统计学意义（χ2=6.574，P=0.037），此位点C和T等位基因分布频率分别为80%、20%和70%、30%，差异有统计学意义（χ2=8.000，P=0.005）；哮喘组和对照组ORMDL3基因rs4378650位点各基因型（CC、CT、TT）频率分别为59%、27%、14%和53%、21%、26%，差异有统计学意义（χ2=7.654，P=0.020），此位点C和T等位基因分布频率分别为73%、27%和63%、37%，差异有统计学意义（χ2=6.424，P=0.010）。 结论 ORMDL3基因多态性与宁波地区儿童哮喘患者有一定的相关性。

[关键词] 基因多态性；儿童哮喘；ORMDL3

[中图分类号] R725[文献标识码] A[文章编号] 1673-7210（2014）06（c）-0027-04

Analysis of relationship between ORMDL3 gene polymorphism with childhood asthma in Ningbo

WANG Haiyan TU Linxiu HUANG Yanli CHEN Kaiyu FENG Bihong

Department of Pediatrics, the People's Hospital of Beilun District in Ningbo City, Zhejiang Province, Ningbo 315800, China

[Abstract] Objective To investigate the relationship between ORMDL3 gene polymorphism and childhood asthma in Ningbo. Methods Polymorphism of ORMDL3 gene was identified with polymerase chain reaction-restriction fragmented length polymorphism (PCR-RFLP) in 150 childhood asthma patients (asthma group) and 150 healthy controls (control group), the results were compared. Results The distribution frequency of ORMDL3 gene rs11650680 locus genotypes including CC, CT and TT in the asthma group and control groups were 68%, 24%, 8% and 57%, 25%, 18%, respectively, there was a significant difference between the asthma group and control groups (χ2 = 6.574, P = 0.037). The locus C and T allele frequencies were 80%, 20% and 70%, 30%, respectively, and there was a significant difference between asthma group and control group (χ2 = 8.000, P = 0.005). The distribution frequency of ORMDL3 gene rs4378650 locus genotypes including CC, CT and TT were 59%, 27%, 14% and 53%, 21%, 26%, respectively, and the difference was statistically significant (χ2 = 7.654, P = 0.020). The locus C and T allele frequencies were 73%, 27% and 63%, 37%, respectively, there was a significant difference between the asthma group and control group (χ2 = 6.424，P=0.010). Conclusion ORMDL3 gene polymorphisms is associated with the childhood asthma in Ningbo.

[Key words] Gene polymorphism; Childhood asthma; ORMDL3

哮喘是一种慢性支气管炎疾病，其发病与遗传因素和多种环境因素（包括吸烟、饮食和呼吸道感染等）相关[1]。近年来支气管哮喘发病率明显增加，总患病率呈上升趋势，尤其在儿童中，哮喘患儿比例逐年上升[2]。寻找哮喘发病的易感基因是目前研究的一大热点，文献已经报道超过200个哮喘相关基因[3]。其中，多项研究证实ORMDL3基因与儿童哮喘的发病有关[4-6]。ORMDL基因是科学家在对色素性视网膜炎进行基因测序时发现的一个新基因，该基因属于一个新的基因家族，在人类中由3个成员基因（ORMDL1、ORMDL2和ORMDL3）组成，并在酵母、脊椎动物等中均有表达。基因ORMDL3含有6560个碱基对，其中包括3个外显子，编码含153个氨基酸残基和4个跨膜区。ORMDL3基因蛋白质产物在人体组织中广泛表达，但主要集中在细胞内质网。……