中国人结直肠瘤与维生素D受体基因Fok I多态的相关性

目的:分析中国结直肠肿瘤患者维生素D受体(vitamin D receptor,VDR)Fok I多态的分布特征,探讨其与中国人结直肠癌发病的相关性. 方法:收集了69例中国结直肠肿瘤病人及218例健康对照者.采用常规方法制备外周血gDNA,应用PCR-RFLP方法检测并分析VDR Fok I多态的分布频率. 结果:F等位基因频率在健康对照者和结直肠肿瘤病人中分别是61.5%和49.3%,健康对照者和结直肠肿瘤病人中的FF,Ff和ff 3种基因型分布频率分别为39.5%,44.0%,16.5% 和29.1%,40.5%,30.4%.F等位基因频率和基因型频率在健康对照者和结直肠肿瘤病人中均存在显著差异(P＜0.05).优势比(odds ratio,OR)分析中,Ff基因型人群中结直肠癌患病风险的OR值为2.00(95%可信区间: 1.01～3.96),ff基因型人群中结直肠癌患病风险的OR值为2.51(95%可信区间: 1.21～5.18) (P＜0.01). 结论:本研究揭示了VDR基因起始密码子区 Fok I多态在中国人群中的广泛分布特征,同时揭示了VDR Fok I变异可能降低个体患结直肠肿瘤的危险性.

Polymorphism of vitamin D receptor Fok I and colorectal cancer risk in Chinese

OBJECTIVE: To explore the frequency of vitamin D receptor (VDR) Fok I polymorphism in healthy Chinese and colorectal tumor patients,and to study the correlation between VDR Fok I polymorphism and the pathogenesis of colorectal tumor. METHODS: After the preparation of gDNA by common method,VDR genotypes were determined by Fok I restriction endonuclease digestion of PCR-amplified DNA in 69 colorectal cancer patients and 218 healthy persons. RESULTS: The F allele frequencies of VDR in healthy persons and in colorectal tumors patients were 61.5% and 49.3%, respectively, with statistical difference (P< 0.05). The genotype frequencies of FF, Ff and ff in healthy persons and in colorectal tumors patient were (39.5%,44%,16.5%) and (29.1%,40.5%,30.4%), respectively,with statistical differences (P< 0.05). The odds ratio of ff and Ff genotypes were 2.51 (95% confidence interval,1.21 approximately 5.18) and 2.00 (95% confidence intervals,1.01approximately 3.96), respectively (P< 0.01). CONCLUSION: Fok I polymorphism is a common single nucleotide polymorphism (SNP) of VDR in Chinese population,and the VDR Fok I polymorphism may lower the risk of colorectal tumor.