口腔鳞状细胞癌患者易感基因全基因组关联分析

Genome-wide association study in patients with oral squamous cell carcinoma susceptibility gene

目的:获得与口腔鳞状细胞癌(OSCC)易感及转移密切相关的单核苷酸多态性(Single Nucleotide Polymorphi-sms,SNP)位点。方法:选择10例晚期OSCC患者原发灶及颈淋巴结转移灶组织,24个健康志愿者的外周血样本,提取DNA,采用全基因组外显子测序技术,分析口腔癌发生及转移的易感基因。结果:聚类运算后,将样本分为病例组(原发灶+转移灶)和健康组进行关联分析,初步分析得出622个SNP相关位点,经多重校正,确定2个SNP有意义(P<0.05),查询NCBI数据库Gene确定了为HLA-B基因和C19orf45基因。结论:HLA-B基因和C19orf45基因可能与口腔鳞状细胞癌的发生相关。

Objective：To obtain the locus of single nucleotide polymorphism（SNP）which is highly related to the oral squamous carcinoma metastasis and susceptibility. Method：The DNA were extracted from ten cases of oral cancer patients＇ advanced primary tumor tissues and cervical lymph node metastasis tissues,and 24 cases of healthy volunteers＇ peripheral blood samples,and analyzed the susceptibility genes of oral cancer occurrence and metastasis by whole-genome exon sequencing. Result：The samples were divided into case group（primary tumors and metastases）and control group（healthy）via clustering algorithm,and 622 SNPs related locus were obtained by preliminary analysis. Two SNPs（HLA-B gene and C19orf45 gene） were confirmed（P〈0.05） by querying the NCBI database. Conclusion：HLA-B gene and C19orf45 gene may be associated with the occurrence of oral squamous carcinoma.