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目的探讨汉族人群脂联素(APN)基因启动子区+45T/G单核苷酸多态性(SNP)与子痫前期及脂联素水平的关系。方法选择2011年1～9月在中国人民解放军第202医院定期产前检查并住院诊治的汉族孕妇259例,包括子痫前期组孕妇127例及正常妊娠对照组孕妇132例。采用基因测序法检测这两组孕妇脂联素基因单核苷酸多态性并进行序列分析,并采用酶联免疫吸附法(ELISA)测定其血浆脂联素水平。结果 (1)与正常妊娠对照组相比,GG+TG基因型分布频率在子痫前期组明显升高(χ2=10.8,P<0.05,OR=2.29,95%CI1.39～3.75),G等位基因分布频率在子痫前期组明显高于正常妊娠对照组(χ2=11.2,P<0.05,OR=1.91,95%CI1.31～2.79)。(2)血浆脂联素水平在正常妊娠对照组TT与TG+GG基因型间比较差异无统计学意义(P>0.05);在子痫前期病例组,GG+TG基因型患者血浆脂联素水平明显低于TT基因型者,差异有统计学意义(P<0.05)。结论汉族子痫前期孕妇存在脂联素基因启动子区+45T/G多态性,T→G突变可能通过影响脂联素代谢参与子痫前期的发病。
Objective To investigate the relationship between 45N single nucleotide polymorphisms (SNP) of adiponectin (APN) gene and the levels of preeclampsia and adiponectin in Chinese Han population. Methods A total of 259 pregnant women, including 127 pregnant women in preeclampsia group and 132 pregnant women in normal pregnancy control group, were enrolled in this study. The single nucleotide polymorphisms of adiponectin gene in both groups were detected by gene sequencing and sequenced. The plasma adiponectin level was measured by enzyme-linked immunosorbent assay (ELISA). Results (1) The frequencies of GG + TG genotypes in preeclampsia group were significantly higher than those in normal pregnancy control group (χ2 = 10.8, P <0.05, OR = 2.29, 95% CI 1.39 ~ 3.75) The frequency of allele distribution in preeclampsia group was significantly higher than that in normal pregnancy control group (χ2 = 11.2, P <0.05, OR = 1.91, 95% CI 1.31-2.79). (2) There was no significant difference in plasma adiponectin level between TT and TG + GG genotypes in normal pregnancy control group (P> 0.05). In the preeclampsia group, plasma adiponectin The level was significantly lower than the TT genotype, the difference was statistically significant (P <0.05). Conclusion There is a +45 T / G polymorphism in the promoter region of adiponectin gene in pregnant women with preeclampsia in Han. T → G mutation may play an important role in the pathogenesis of preeclampsia by affecting adiponectin metabolism.