【摘要】 目的 探讨维生素D受体(VDR)基因单核苷酸多态性(SNP)FokⅠ(rs2228570/rs10735810)位点多态性与青海省汉族妇女妊娠期高血压疾病(HDCP)的相关性。方法 选择青海省汉族HDCP患者137例(HDCP组),正常汉族孕妇146例(对照组),使用聚合酶链式反应-限制性核酸内切酶片段长度多态性(PCR-RFLP)方法检测HDCP组和对照组FokⅠ位点的基因分型并测序验证，使用SPSS 19.0统计学软件检验两组一般临床资料、基因型及等位基因频率分布差异是否具有统计学意义。结果 HDCP组和对照组FokⅠ位点FF、Ff、ff基因型频率分别为51.82%、37.96%、10.22%和34.93%、43.15%和21.92%(χ~2=11.099,P<0.05),HDCP组FF基因型(OR=2.004,95%CI=1.243～3.231)频率高于对照组；HDCP组和对照组FokⅠ位点F和f等位基因频率分布差异有统计学意义(χ~2=12.454,P<0.001),HDCP组F等位基因(OR=1.253,95%CI=1.105～1.421)频率高于对照组。结论 VDR基因FokⅠ位点多态性与青海省汉族HDCP相关，其中F等位基因可能是HDCP的易感基因，FF基因型可能是HDCP的易感基因型。更多还原

【Abstract】 Objective To investigate the relationship between single nucleotide polymorphism(SNP) FokⅠ(rs2228570/rs10735810)of vitamin D receptor(VDR) gene and hypertensive disorder complicating pregnancy(HDCP) in Han nationality women of Qinghai province. Methods A total of 137 Han nationality HDCP subjects(HDCP group) and 146 Han nationality normal pregnant subjects(control group) were selected from Qinghai province. The FokⅠ polymorphism typing in HCDP group and control group was analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). The mutation was confirmed by sequencing. SPSS 19.0 statistical software was used to test whether there were significant differences between two groups in general clinical data, genotype and allele frequency distribution. Results The frequency of FF Ff ff genotype of FokⅠ in HDCP group and control group were 51.82%, 37.96%, 10.22% and 34.93%, 43.15%, 21.92% respectively(χ~2=11.099, P<0.05, the distribution of genotype was different significantly between the two groups), the frequency of FF genotype in HDCP group(OR=2.004, 95%CI=1.243-3.231) was higher than that in control group; The frequency distribution of alleles F and f of FokⅠ was significantly different between HDCP group and control group(χ~2=12.454, P<0.001), F allele frequency in HDCP group(OR=1.253, 95%CI=1.105-1.421) was higher than that in control group. Conclusion The FokⅠ polymorphism of VDR gene is significantly correlated with hypertensive disorder complicating pregnancy of Han nationality in Qinghai. The F allele may be the susceptibility gene of HDCP, the FF genotype may be the susceptibility genotype of HDCP.更多还原