北方汉族人群维生素D受体基因Bsm I位点多态性与前列腺癌易感性的相关性分析

目的 :研究低发病的中国汉族人群维生素D受体基因 (VDRG)BsmⅠ 位点单核苷酸多态性 (SNP)与前列腺癌的关系 ,探讨不同种族前列腺癌发病的基因差异。　方法 :收集中国北方地区汉族人群 10 3例前列腺癌病人及10 6例健康对照者外周血标本 ,应用变性高效液相色谱 (DHPLC)检测VDRG第 8内含子BsmⅠ多态位点 ,并对该位点SNP分布进行分析。　结果 :BsmⅠ 多态位点bb、Bb、BB基因型和等位基因在北方地区汉族前列腺癌病人及对照者中的分布频率差异无显著性 (P >0 .0 5 ) ,基因型分布频率分别为 92 .2 3%、7.77%、0和 94.34 %、5 .6 6 %、0 ;等位基因B、b分别为 3.88%、96 .12 %和 2 .91%、97.0 9%,而与高发病人群的分布相比有显著不同。　结论 :VDRGBsmⅠ多态性在低发病的中国汉族人群与前列腺癌无相关 ,其分布与高发病人群有明显差异 ,提示VDRGBsmⅠ多态性可能是前列腺癌发病种族差异的原因之一。

Vitamin D receptor gene Bsm I polymorphism and the susceptibility to prostate cancer in northern Chinese Han population]

OBJECTIVES: To investigate Bsm I single nucleotide polymorphism (SNP) of vitamin D receptor gene (VDRG) in low-risk Chinese Han population and its relationship to the susceptibility to prostate cancer (PCa), and to discuss the possible reason for the racial difference of PCa. METHODS: One hundred and three patients with PCa and 106 normal controls, mainly from Northern Chinese Han population, were enrolled in this study. Their blood samples were obtained, all of which were genotyped for Bsm I SNP by denaturing high performance liquid chromatography(DHPLC) methods using case-control study. RESULTS: The distribution of genotype and allele had no significant difference between PCa patients and normal controls (P > 0.05). The frequencies for the bb, Bb and BB genotypes in PCa patients and normal controls were 92.23%/94.34%, 7.77%/5.66%, and 0/0, respectively. The frequencies for B and b allele were 3.88%, 96.12% and 2.91%, 97.09%, respectively. CONCLUSIONS: The results indicate no significant relationship between the VDRG polymorphisms and PCa in Northern Chinese Han population. The distribution of VDRG Bsm I SNP varies in different ethnic populations, which may be one reason for the racial difference of PCa.