VDR起始密码子区突变与北方汉族人群乳腺癌易感性的关系研究

Association of vitamin D receptor start codon polymorphism and breast cancer risk in Han nationality of North China

目的探讨维生素D受体(VDR)起始密码子区FokⅠ突变与中国北方汉族人群乳腺癌发病的相关性。方法提取81例乳腺癌患者及78例健康对照者外周血基因组DNA(gDNA),应用聚合酶链反应—限制性片段长度多态性检测并分析DNA FokⅠ多态性在两组中的分布。结果健康对照组FokⅠ多态位点FF、Ff、ff基因型频率,等位基因F、f分布频率分别为33.33%、56.41%、10.26%、61.5%、38.5%;病例组分别为19.75%、59.26%、20.99%、49.4%、50.6%,组间比较均有统计学差异(P均<0.05)。Ff、ff基因型人群乳腺癌患病风险的OR值分别为1.30和1.84(P均<0.01)。结论 VDR等位基因f有可能成为乳腺癌的遗传标志基因。

Objective To explore the correlation between vitamin D receptor（VDR） Fok Ⅰ polymorphism and the breast cancer in Han nationality of North China.Methods After the preparation of gene DNA by common method,VDR genotypes were determined by Fok Ⅰ restriction endonuclease digestion of PCR-amplified DNA in 81 breast cancer patients and 78 healthy persons.Results The genotype frequencies of FF,Ff,ff and F,f allele frequencies of VDR in healthy persons were 33.33%,56.41%,10.26%,61.5%,38.5%,respectively,which were both significantly different as compared to breast cancer patients with respective frequencies of 19.75%,59.26%,20.99%,49.4%,50.6%（P0.05）.The odds ratio of ff and Ff genotypes suffering breast cancer were 1.84 and 1.30 respectively（P0.01）.Conclusion VDR f allelic may be a genetic mark gene of breast cancer.