云南汉族人群HSPA1A基因多态与宫颈癌发生发展的相关性研究  

Association of HSPA1A gene single nucleotide polymorphisms with the development of cervical cancer among ethnic Han Chinese from Yunnan

作　　者：张新文[1] 严志凌[2] 史荔[1] 杨宏英[2] 洪超[1] 俞建昆[1] 李传印[1] 姚宇峰[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妇科,650118

出　　处：《中华医学遗传学杂志》2017年第6期909-914,共6页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81573206、31270030）;协和青年基金（3332015149）;云南省应用基础研究重点项目（2016FA034）;云南省妇科肿瘤内设研究机构中心（2014NS032）;中国医学科学院病原生物学研究所基本科研业务费项目（2012IPB107）

摘　　要：目的探讨云南汉族人群中HSPA1A基因多态性与宫颈癌发生和发展的相关性。方法选取宫颈癌患者以及444例癌前病变（CINⅢ期）患者130例，健康正常对照548例。用TaqMan探针基因分型方法对HSPAIA基因的4个SNP位点[rs12190359（C〉T）、rs562047（C〉G）、rsl008438（G〉T）和rsl043618（G〉c）]进行基因分型，研究其等位基因、基因型及所构建的单倍型在CINUI期患者、宫颈癌患者和健康对照人群中分布频率的差异。结果rs1008438位点等位基因G和T在CINⅢ期组和对照组、癌症组和对照组（P=0．022和0．030）中的分布频率的差异具有统计学意义，而在CINⅢ期组和癌症组中的分布频率差异无统计学意义（P〉0．05）；rs1008438位点基因型GG、GT和TT仅在CINⅢ期组和对照组中分布频率差异具有统计学意义（P=0．047），而在CINⅢ期组和癌症组之间、癌症组和对照组之间的分布频率差异无统计学意义（P〉0．05）。rs12190359、rs562047和rs1043618位点的等位基因和基因型在病例组和对照组中的分布频率的差异均无统计学意义（P〉0．05）。根据连锁不平衡的分析结果，对rs562047、rs1008438和rs1043618三个位点构建的单倍型进行分析，结果未显示有单倍型在各组间分布频率的差异有统计学意义（P〉0．05）。结论HSPA1A基因rs1008438位点等位基因G可能是云南汉族人群宫颈癌发生的保护性因素（OR=0．797；95％CI：0．674-0．943）。Objective To assess the association of four single nucleotide polymorphisms （SNPs） （rs12190359C〉T, rs562047C〉G, rs1008438G〉T, and rs1043618G〉C） of HSPA1A gene with the development of cervical cancer among ethnic Han Chinese from Yunnan. Methods One hundred and thirty patients with CIN Ⅲ , 444 patients with cervical cancer, and 548 healthy individuals were recruited, and the genotypes of the above SNPs were determined with a Taqman assay. Haplotypes were constructed, and their association with the development of cervical cancer was analyzed. Results The frequencies of G and T alleles of rs1008438G〉T were significant different between the CIN Ⅲ and control groups, as well as between the cancer and control groups （P =0. 022 and P= 0. 030, respectively）. There was a significant difference in genotypic frequency of rs1008438G〉T between the CIN Ⅲ and control groups （P=0. 047）.The allelic and genotypic frequencies of rs12190359C〉T, rs562047C〉G, and rs1043618G〉C did not significantly differ between the CIN Ⅲ, cervical cancer and control groups （P〉0.05）. The frequencies of haplotypes formed by rs562047C〉G, rs1008438G〉T and rs1043618G〉C also did not significantly differ between the CINⅢ, cancer and control groups （P〉0.05）. Conclusion The G allele of rs1008438G〉T may be a protective factor for cervical cancer among ethnic Han Chinese from Yunnan.

关 键 词：宫颈癌 HSPA1A基因 单核苷酸多态性 相关性 

分 类 号：R737.33[医药卫生—肿瘤]