长春市汉族女性维生素D受体基因BsmⅠ和FokⅠ位点多态性与骨密度相关性研究

摘要

目的 研究长春市35～85岁汉族女性维生素D受体(vitamin D receptor,VDR)基因BsmⅠ、FokⅠ位点的多态性,并分析其与骨密度(bone mineral density,BMD)的相关关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析BsmⅠ和FokⅠ酶切位点多态性,采用Hologic Discovery WA型骨密度仪检测腰椎正位(L1～4)BMD.将230例受试者分成绝经组和未绝经组,观察两组各基因型分布特征,应用SPSS 19.0软件对试验结果进行统计分析.结果 在本研究人群中, BsmⅠ位点基因型分布情况为bb占83.9%、Bb占12.6%、BB占3.5%,b 等位基因频率高达90.2%,B 等位基因频率为9.8%;FokⅠ位点基因型分布情况为ff占18.3%、Ff占43.9%、FF占37.8%,f等位基因频率为40.2%,F等位基因频率为59.8%,两位点基因型分布均符合Hardy-Weinberg定律(χ2=1.283,P=0.125;χ2=0.96,P=0.342);未绝经组与绝经组各基因型分布组间差异无统计学意义(P＞0.05);BsmⅠ位点在未绝经组和绝经组中各基因型BMD无差异(P＞0.05);FokⅠ位点ff型BMD较FF型和Ff型低,但在未绝经组中差异无统计学意义(P＞0.05),绝经组中ff型与FF型比较,BMD差异有统计学意义(P＜0.05).结论 在本研究的230例35～85岁汉族女性人群中,BsmⅠ位点基因型分布以bb型为主,b等位基因频率高达90.2%,各基因型骨密度无差异;FokⅠ位点ff型有较低的BMD,但在未绝经组中差异无统计学意义,在绝经后女性中ff型与低BMD相关.%Objective To study the polymorphisms of vitamin D receptor (VDR) gene BsmⅠand FokⅠin Han females aged 35-85 years in Changchun city and to analyze their relationship with bone mineral density.Methods Polymorphisms of Bsm Ⅰand Fok Ⅰwere analyzed by PCR-RFLP, and lumbar spine (L1-4) BMD were measured using Hologic Discovery-WA-type bone densitometer.230 objects were grouped into postmenopausal group and premenopausal group, then we observed the distribution characteristics of each genotype.SPSS 19.0 software was used to analyze the experimental result.Results In the present study, the genotype distributions of BsmⅠwere bb (83.9%), Bb (12.6%) and BB (3.5%).The b allele frequency was as high as 90.2% and the B allele frequency was 9.8%.The genotype distributions of FokⅠwere ff (18.3%), Ff (43.9%) and FF (37.8%).The frequency of f allele was 40.2% and the frequency of F allele was 59.8%.The distribution of genotypes of both sites were in accordance with Hardy-Weinberg law (χ2=1.283, P =0.125; χ2=0.96, P=0.342).There was no significant difference in the genotype distribution between the premenopausal group and the postmenopausal group (P ＞0.05).In both premenopausal group and postmenopausal group, BMD for each genotype of BsmⅠwas not significantly different (P＞0.05). BMD of FokⅠff type was lower than that of FF type and Ff type; BMD of these three genotypes was not significantly different in the premenopausal group (P＞0.05), but BMD of ff type was lower than that of FF type in postmenopausal group (P＜0.05). Conclusion In this study in 230 Han women aged 35 to 85 years, the distribution of BsmⅠgenotype was mainly bb, the b allele frequency was as high as 90.2%, and there was no significant difference in BMD between each genotype; FokⅠff type had lower BMD, but there was no significant difference in the premenopausal group, and in postmenopausal women ff type was associated with lower BMD.