摘要
目的探讨CYP19A1基因多态性与乳腺癌患病风险的相关性。方法选择2014年3月至2018年3月汉中市中心医院收治的女性乳腺癌患者300例为乳腺癌组,同时选择健康女性300例作为对照组,采集2组受试者血样,采用Sanger测序法对CYP19A1基因上rs4646、rs6493487、rs1062033、rs17601876和rs3751599共5个位点进行分型,分析CYP19A1基因多态性与乳腺癌患病风险的相关性。结果 CYP19A1基因上5个候选单核苷酸多态性均符合Hardy-Weinberg平衡定律(P>0.05)。乳腺癌组CYP19A1基因上rs4646位点的等位基因C、rs6493487位点的等位基因G及rs17601876位点的等位基因A频率低于对照组(P<0.05)。乳腺癌组CYP19A1基因上rs4646位点的AA基因型、rs6493487位点的AG和GG基因型、rs17601876位点的AG和AA基因型频率低于对照组(P<0.05),而rs1062033位点的GG基因型频率高于对照组(P<0.05)。rs4646和rs6493487在显性遗传模型和加性遗传模型下与降低乳腺癌患病风险有相关性(P<0.05),rs1062033在隐性遗传模型下与增加乳腺癌风险有相关性(P<0.05),而rs17601876在3个遗传模型下均与降低乳腺癌风险有相关性(P<0.05)。结论 CYP19A1基因上的rs4646、rs6493487、rs17601876位点多态性与降低乳腺癌患病风险相关,而rs1062033位点多态性与增加乳腺癌患病风险相关。
Objective To investigate the association between CYP19A1 gene polymorphism and the risk of breast cancer.Methods A total of 300 women with breast cancer in Hanzhong Central Hospital from March 2014 to March 2018 were selected as the breast cancer group,and 300 healthy women were selected as the control group at the same time.The blood samples of the subjects in the two groups were collected.The genotypes of rs4646,rs6493487,rs1062033,rs17601876 and rs3751599 in CYP19A1 gene were detected by Sanger sequencing,and the correlation between CYP19A1 gene polymorphism and the risk of breast cancer was analysed.Results The five candidate single nucleotide polymorphism in CYP19A1 gene were in line with the Hardy-Weinberg balance law(P>0.05).The frequencies of allele C of rs4646 locus,allele G of rs6493487 locus and allele A of rs17601876 locus in CYP19A1 gene in the breast cancer group were lower than those in the control group(P<0.05).The frequencies of AA genotype of rs4646 locus,AG and GG genotypes of rs6493487 locus,AG and AA genotypes of rs17601876 locus in CYP19A1 gene in the breast cancer group were lower than those in the control group(P<0.05).The frequency of GG genotype of rs1062033 locus in CYP19A1 gene in the breast cancer group was higher than that in the control group(P<0.05).The rs4646 and rs6493487 were correlated with decreasing the risk of breast cancer under dominant and additive genetic models(P<0.05).The rs1062033 was associated with increasing the risk of breast cancer under recessive genetic model(P<0.05).The rs17601876 was associated with decreasing the risk of breast cancer under the three genetic models(P<0.05).Conclusion The rs4646,rs6493487 and rs17601876 polymorphisms in CYP19A1 gene are associated with reducing the risk of breast cancer;and the rs1062033 polymorphism is associated with increasing the risk of breast cancer.
作者
何三军
韩亦非
HE San-jun;HAN Yi-fei(Department of Clinical Laboratory,Hanzhong Central Hospital,Hanzhong 723000,Shaanxi Province,China;Hanzhong Center for Disease Control and Prevention,Hanzhong 723000,Shaanxi Province,China)
出处
《新乡医学院学报》
CAS
2018年第9期788-791,共4页
Journal of Xinxiang Medical University
基金
陕西省自然科学基础研究计划项目(编号:2015JM8427)
