SMAD4基因单核苷酸多态性位点rs12958604和rs10502913与宫颈癌相关性研究  

Study of correlation between rs12958604 and rs10502913 single nucleotide poly-morphisms in SMAD4 gene and cervical cancer

作　　者：滕元姬[1] 凌永嫦 王永亮 李美琴[4] 王春芳[1] 王俊利 杨凤莲 Yuanji Teng;Yongchang Ling;Yongliang Wang;Meiqin Li;Chunfang Wang;Junli Wang;Fenglian Yang(Center for Clinical Laboratory Diagnosis and Research,Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,China;Department of Obstetrics,Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,China;College of Medical Laboratory,Youjiang Medical University for Nationalities,Baise 533000,China;Department of Clinical Laboratory,Guangxi Medical University Cancer Hospital,Nanning 530003,China)

机构地区：[1]右江民族医学院附属医院检验科,广西百色市533000 [2]右江民族医学院附属医院产科,广西百色市533000 [3]右江民族医学院医学检验学院 [4]广西医科大学附属肿瘤医院检验科

出　　处：《中国肿瘤临床》2022年第22期1175-1179,共5页Chinese Journal of Clinical Oncology

摘　　要：目的:探讨SMAD4基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点rs12958604和rs10502913与宫颈癌遗传易感性之间的关系。方法:收集2018年2月至2019年12月右江民族医学院附属医院和广西医科大学附属肿瘤医院确诊的宫颈癌患者和健康体检者血液样本各342例及其临床病理资料,分为宫颈癌组和对照组,采用DNA测序法和SNaPshot技术检测SNP,分析比较两组rs12958604和rs10502913基因型、等位基因、基因模型、单倍型差异性。结果:两组SMAD4的rs10502913基因型及等位基因进行比较差异均无统计学意义(均P>0.05),两组SMAD4的rs12958604 GG基因型和GG+GA显性模型及G等位基因进行比较差异均具有统计学意义(OR=0.577,95%Cl:0.380~0.877,P=0.010;OR=0.670,95%Cl:0.483~0.928,P=0.016及OR=0.743,95%Cl:0.600~0.920,P=0.006)。单倍型分析显示G-A和G-G在两组中差异均具有统计学意义(均P<0.05)。多元Logistic回归多因素分析显示高血压是独立危险因素。结论:SMAD4基因SNP位点rs12958604与宫颈癌易感性可能存在关联。Objective:To explore the relationship between the single nucleotide polymorphisms(SNPs)rs12958604 and rs10502913 of SMAD4 gene and susceptibility to cervical cancer.Methods:The blood samples and related clinicopathological data of 342 cervical cancer patients and 342 healthy individuals diagnosed in Affiliated Hospital of Youjiang Medical University for Nationalities and Guangxi Medical University Cancer Hospital from February 2018 to December 2019 were collected and assigned into cervical cancer group and control group.DNA sequencing and SNaPshot detection were used to analyze and compare the differences between rs12958604 and rs10502913 genotypes,alleles,gene models,and haplotypes between the two groups.Results:The differences in genotype and allele frequencies in rs10502913 between cervical cancer patients and healthy individuals had no statistical significance(P>0.05).There were significant differences in the rs12958604 GG genotype,GG+GA dominant model,and G allele between the two groups(OR=0.577,95%Cl:0.380-0.877,P=0.010;OR=0.670,95%Cl:0.483-0.928,P=0.016;and OR=0.743,95%Cl:0.600-0.920,P=0.006).Haploid analysis showed that there were statistically significant differences between G-A and G-G between the two group(P<0.05).Multivariate Logistic regression analysis showed that hypertension was an independent risk factor.Conclusions:There may exist a correlation between rs12958604 and susceptibility to cervical cancer.

关 键 词：宫颈癌 SMAD4 基因 单核苷酸多态性 

分 类 号：R737.33[医药卫生—肿瘤]