FOXE1基因单核苷酸多态性与甲状腺乳头状癌临床易感的相关性研究

摘要

目的 探讨四川南充地区汉族人群中FOXE1基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与甲状腺乳头癌(papillary thyroid carcinoma,PTC)临床易感的关系.方法 选取150例PTC患者与180例汉族正常人群.以FOXE1基因rs535522715、rs111482243、rs965513、rs1867277、rs1867278、rs531484350、rs549601899位点作为遗传标记,用基因测序法检测FOXE1基因单核苷酸多态性.结果 FOXE1基因rs535522715、rs111482243、rs531484350、rs549601899在甲状腺乳头状癌组及正常人群组均未检测出突变.与正常人群组的比较,甲状腺乳头状癌组rs1867278等位基因及基因型频率组间分布差异有统计学意义(P<0.05),rs965513、rs1867277等位基因及基因分型频率组间分布差异无统计学意义(P>0.05),且rs1867278在甲状腺乳头状癌组携带C等位基因风险是正常人群组的1.92倍(OR=1.92,95%CI=1.244~2.969,P=0.003).结论 FOXE1基因rs1867278与甲状腺乳头状癌的临床易感性具有相关性,rs1867278位点C等位基因是甲状腺乳头状癌的风险等位基因.%Objective To investigate the correlation between FOXE1 single nucleotide polymorphisms (SNP) and papillary thyroid carcinoma ( PTC) in a Han population of Sichuan Nanchong area .Methods A case control study was used to select 150 cases of papillary thyroid carcinoma and 180 cases of normal subjects of Han nationality .The rs535522715 , rs111482243 , rs965513 , rs1867277 ,rs1867278 ,rs531484350 and rs549601899 loci of FOXE1 gene were used as genetic markers .The gene sequencing method was used to detect FOXE1 gene SNP.Results No mutation in FOXE1 gene at rs535522715 , rs111482243 , rs531484350 and rs549601899 loci was found in the carcinoma group or the normal group .Frequency distribution of rs1867278 allele in the carcinoma group was different from the control group ( P<0.05 ) while frequency distribution of rs 965513 and rs1867277 alleles was not signifi-cant between the two groups (P>0.05).Moreover,gene risk of rs1867278 in the carcinoma group carrying 'C'was 1.92 times as high as that of the normal group (OR=1.92,95%CI=1.244 ~2.969,P =0.003).Conclusion FOXE1 gene rs1867278 is associated with the clinical susceptibility of papillary thyroid carcinoma ,and the "C"allele of the rs1867278 locus is a risk allele for this type of carcinoma.