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目的探讨性激素结合球蛋白(SHBG)基因启动子(TAAAA)n片断重复多态性及外周血水平与妊娠期糖尿病(GDM)发病的相关性。方法选择2011年1月至2016年2月中国医科大学附属盛京医院收治的GDM孕妇211例为GDM组,同期单胎分娩女婴的205例健康孕妇为对照组。采用基因片段分析加测序法检测外周血SHBG基因启动子(TAAAA)n重复多态长度和重复次数。应用酶联免疫吸附试验方法分别检测外周血血清、胎儿脐血血清SHBG水平,并对研究结果进行统计分析。结果所有孕妇外周血中均可检测到(TAAAA)n 6、7、8、9、10次重复次数的5个等位基因,共计14种基因型。GDM组与对照组间5种等位基因总构成比差异有统计学意义(P=0.004);8/9基因型与9/9基因型频率高于对照组(P=0.027;P=0.041);GDM组母体血清长链重复基因型血清SHBG水平明显低于短链重复基因型血清SHBG水平(P<0.001)。结论在SHBG基因启动子(TAAAA)n多态中,长链重复基因型8/9、9/9基因型的妇女GDM患病概率增大,属高危人群,故对外周血进行(TAAAA)n基因检测可作为临床GDM发病相关性的参考指标之一。
Objective To investigate the association between repetitive polymorphism of the TAAAA gene n gene and the level of peripheral blood and the incidence of gestational diabetes mellitus (GDM). Methods From January 2011 to February 2016, 211 pregnant women with GDM in Shengjing Hospital affiliated to China Medical University were selected as GDM group, and 205 healthy pregnant women with single childbirth were selected as control group. The gene fragment analysis and sequencing were used to detect the repeat polymorphism length and repeat number of SHAA gene promoter (TAAAA) n in peripheral blood. Serum and fetal umbilical blood serum SHBG levels were detected by enzyme-linked immunosorbent assay, and the results were statistically analyzed. Results All the 5 alleles (TAAAA) n, 6, 7, 8, 9 and 10 repeats were detected in peripheral blood of all pregnant women, for a total of 14 genotypes. There were significant differences in the total constitutional ratios of the five alleles between the GDM group and the control group (P = 0.004). The frequencies of the 8/9 genotype and the 9/9 genotype were higher than those in the control group (P = 0.027; P = 0.041) The level of SHBG in serum of GDM group was significantly lower than that of SHBG in short-chain repeat genotype (P <0.001). CONCLUSIONS: The prevalence of GDM in women with long-chain repeat genotype 8/9 and 9/9 genotypes in SHBG gene promoter (TAAAA) n polymorphism is a high risk group, so TAAAA n Genetic testing can be used as a reference for clinical GDM incidence.