天津医药

天津医药 ›› 2015, Vol. 43 ›› Issue (12): 1349-1353.doi: 10.11958/j.issn.0253-9896.2015.12.002

• 细胞与分子生物学 • 上一篇    下一篇

新疆地区哈萨克族慢性阻塞性肺疾病易感性与ADAM33 基因多态性的关系

王莎莎，关键△，王珊，成芳娟，任侠，许西琳，高岩   

  1. 石河子大学医学院第一附属医院呼吸内科（邮编832008）
  • 收稿日期:2015-07-28 修回日期:2015-09-01 出版日期:2015-12-15 发布日期:2015-12-11
  • 通讯作者: △通讯作者E-mail:guanjian6@163.com E-mail:1653755750@qq.com
  • 作者简介:王莎莎（1990），女，硕士研究生，主要从事呼吸系统疾病研究
  • 基金资助:
    国家自然科学基金资助项目（81360009）

Association between ADAM33 gene polymorphism with chronic obstructive pulmonary disease incidence in Kazakh of Xinjiang

WANG Shasha, GUAN Jian△, WANG Shan, CHENG Fangjuan, REN Xia, XU Xilin, GAO Yan   

  1. Department of Respiratory Medicine, The First Affiliated Hospital of Medical School, Shihezi University, Shihezi 832008, China
  • Received:2015-07-28 Revised:2015-09-01 Published:2015-12-15 Online:2015-12-11
  • Contact: △Corresponding Author E-mail: guanjian6@163.com E-mail:1653755750@qq.com

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摘要： 目的探究整合素-金属蛋白酶33（ADAM33）基因F+1、S2、T1、ST+5 位点多态性与新疆地区哈萨克族慢性阻塞性肺疾病（COPD）易感性的关系。方法选择193 例对照组及197 例COPD 病例组，提取外周血标本DNA，运用SNaPshot SNP 分型技术检测ADAM33 基因各位点多态性。结果病例组与对照组F+1 位点的基因型及等位基因频率分布比较差异有统计学意义（P<0.05）。病例组中，F+1 位点CC、CT、TT 3 种基因型肺功能相关指标第1 秒用力呼气容积（FEV1）预计值（%）、FEV1/用力肺活量（FVC）比较差异无统计学意义。病例组与对照组S2、ST+5、T1 位点的基因型及等位基因频率分布比较差异无统计学意义；F+1、S2 位点进行单体型分析显示Hap1（CC）在对照组和病例组分布差异有统计学意义（P < 0.05），且OR < 1，表明此单体型可能降低发生COPD 的风险；Hap3（TC）在对照组和病例组分布差异有统计学意义（P < 0.05），且OR > 1，表明此单体型可能增加了COPD 发病的风险；Hap2（TG）、 Hap4（CG）单体型在2 组间分布差异无统计学意义；病例组及对照组T1、ST+5 位点3 种单体型比较差异无统计学意义。结论ADAM33 基因F+1 位点多态性可能与新疆哈萨克族人群COPD 的发生有关。

关键词: 肺疾病, 慢性阻塞性, ADAM 蛋白质类, 多态性, 单核苷酸, 哈萨克族, ADAM33 基因, 单体型

Abstract: Objective To explore correlation of Xinjiang Kazakh population who suffered from COPD with polymor⁃ phisms of F+1,S2,T1,ST+5 locus of ADAM33 gene. Methods Blood samples (n=193) from healthy controls (Control group, n=193) and COPD patients (Case group, n=197) were detected by SNP SNaP shot. Results Comparing case group with the control group, gene frequency and allele frequency of F+1 locus were of significant differences (P < 0.05). In patient group, there were no significant differences in F+1 locus genotype and in clinical indicators include lung function FEV1 predicted and FEV1/FVC (P > 0.05). The gene frequencies and allele frequency of S2、T1 and ST+5 locus were not significantly differ⁃ ent between case group and control group (P > 0.05). F+1 and S2 locus were analyzed by haplotype analysis which showed that there was significant differences in Hap1 (CC) haplotype between case group and control group (P < 0.05), and OR < 1 indicated that its haplotype may reduce the risk of COPD . There were significant differences (P < 0.05) in Hap3(TC) haplo⁃ type between case group and control group and OR > 1 revealed that its haplotype may increase the risk of COPD . The distri⁃ bution of Hap2 (TG) and Hap4 (CG) were not significantly different (P > 0.05) between the 2 groups. T1 and ST+5 locus were analyzed by haplotype analysis which showed significant differences in haplotypes between case group and control group (P < 0.05). Conclusion The occurrence of COPD may be related to the polymorphism of ADAM33 gene in F+1 locus in Xinjiang Kazakh.

Key words: pulmonary disease, chronic obstructive, ADAM proteins, polymorphism, single nucleotide, KAZAKH NATIONALITY, ADAM33 gene, haplotype