ERAP1基因多态性与非小细胞肺癌遗传易感性的关联研究  

ERAP1 genetic polymorphisms are associated with susceptibility of non-small cell lung cancer

作　　者：曹丹凤[1] 马千里[2] 周竞贤[1] 钱旭 李盈甫[4] 俞建昆[1] 姚宇峰[1] 史荔[1] 

机构地区：[1]中国医学科学院 北京协和医学院 医学生物学研究所 云南省重大传染病疫苗研发重点实验室,昆明650118 [2]昆明医科大学第三附属医院胸外科 [3]昆明市延安医院心血管外科 [4]昆明医科大学第一附属医院干疗科

出　　处：《中华临床医师杂志（电子版）》2013年第22期41-43,共3页Chinese Journal of Clinicians(Electronic Edition)

基　　金：云南省应用基础研究(2012FB064;2013FZ131)

摘　　要：目的探讨内质网氨肽酶1(endoplasmic reticulum aminopeptidase 1,ERAP1)基因多态性与非小细胞肺癌(non-small cell lung cancer,NSCLC)的相关性。方法入选NSCLC患者224例,健康体检人群207例。采用Taq Man探针基因分型方法对ERAP1基因SNP rs26653和rs26618两个位点进行基因分型,并构建单倍型,评估上述两个SNPs及单倍型与NSCLC的相关性。结果病例组和对照组ERAP1基因rs26618和rs26653基因型和等位基因频率差异有统计学意义(P<0.05)。病例组和对照组rs26618/rs26653单倍型CG、TC的单倍型频率差异有统计学意义(P<0.05)。结论 ERAP1基因与NSCLC的发生有关,rs26618/rs26653-CG单倍型可能增加NSCLC的患病风险,rs26618/rs26653-TC单倍型对NSCLC可能具有保护性作用。Objective To evaluate the association between the genetic polymorphisms of endoplasmic reticulum aminopeptidase 1 （ERAP1） and the susceptibility of non-small cell lung cancer （NSCLC） in Chinese Han population. Methods 224 patients with NSCLC and 207 healthy controls in Chinese Han were included in present study. Using TaqMan fluorescence probe technique, the SNPs of rs26618 and rs26653 in ERAP1 gene were genotyped, and rs26618 and rs26653 haplotypes were constructed. Then, the association between the two SNPs with NSCLC was assessed. Results The genotypic and allelic frequencies of rs26618, rs26653 showed significant difference between NSCLC patients and the control groups （all P〈0.05）. The frequencies of haplotype rs26618/rs26653-CG and TC also showed difference between NSCLC patients and the control groups （all P〈0.05）. Conclusion ERAP1 rs26618, rs26653 had a strong association with NSCLC. The rs26618/rs26653-CG haplotype was associated with increased NSCLC risk, whereas rs26618/rs26653-TC haplotype showed a protective effect in NSCLC patients.

关 键 词：癌 非小细胞肺 内质网 氨肽酶类 多态性 单核苷酸 单倍性 

分 类 号：R734.2[医药卫生—肿瘤]