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刘思旭, 白怀, 关林波, 等. 正常孕妇及妊娠糖尿病患者胆固醇7α-羟化酶基因-204A/C多态性的研究[J]. 四川大学学报（医学版）, 2023, 54(2): 361-366. DOI: 10.12182/20230160512
引用本文: 刘思旭, 白怀, 关林波, 等. 正常孕妇及妊娠糖尿病患者胆固醇7α-羟化酶基因-204A/C多态性的研究[J]. 四川大学学报（医学版）, 2023, 54(2): 361-366. DOI: 10.12182/20230160512
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LIU Si-xu, BAI Huai, GUAN Lin-bo, et al. Cholesterol 7α-Hydroxylase Gene-204A/C Polymorphism in Normal and Gestational Diabetic Pregnancies[J]. Journal of Sichuan University (Medical Sciences), 2023, 54(2): 361-366. DOI: 10.12182/20230160512
Citation: LIU Si-xu, BAI Huai, GUAN Lin-bo, et al. Cholesterol 7α-Hydroxylase Gene-204A/C Polymorphism in Normal and Gestational Diabetic Pregnancies[J]. Journal of Sichuan University (Medical Sciences), 2023, 54(2): 361-366. DOI: 10.12182/20230160512
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正常孕妇及妊娠糖尿病患者胆固醇7α-羟化酶基因-204A/C多态性的研究

Cholesterol 7α-Hydroxylase Gene-204A/C Polymorphism in Normal and Gestational Diabetic Pregnancies

    摘要
  • 摘要:
      目的  探讨胆固醇7α-羟化酶基因（CYP7A1）-204A/C单核苷酸多态性与妊娠糖尿病（GDM）患者及正常孕妇血脂水平等的关系。
      方法  应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测1037例正常妊娠者和627例GDM患者CYP7A1-204A/C基因多态性。酶法测定总胆固醇（TC）、甘油三酯（TG）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）和血糖（Glu），化学发光法测定血浆胰岛素（Ins）。免疫透射比浊法测定载脂蛋白A1（apoA1）和B（apoB）水平。
      结果  CYP7A1-204A/C多态位点等位基因A、C频率在GDM组和对照组分别为0.586、0.414和0.557、0.443。两组人群基因型频率分布均符合Hardy-Weinberg平衡定律。CYP7A1-204A/C多态性基因型频率、等位基因A、C频率在GDM组和正常对照组间比较差异无统计学意义。正常妊娠对照组CC基因型者较AA型者血浆apoA1水平增高，Ins和HOMA-IR水平降低（P均<0.05）；正常妊娠对照组中非肥胖亚组CC基因型者血浆TG水平较AA基因型者增加（P<0.05）。在GDM组CYP7A1基因-204A/C多态性AA基因型者较CC型者孕期增重增加（P<0.05）。
      结论  CYP7A1基因-204A/C多态性与GDM无关联，但GDM患者CYP7A1基因-204A/C多态性与孕期增重密切相关。该基因位点的变异在正常妊娠孕妇中与血浆apoA1、胰岛素和HOMA-IR水平密切相关，在非肥胖正常妊娠人群中与血浆TG水平增高密切相关。

     

    Abstract:
      Objective  To investigate the cholesterol 7α-hydroxylase gene (CYP7A1)-204A/C single nucleotide polymorphism and its relationship with the blood lipid levels of pregnant women with gestational diabetes mellitus (GDM) and normal pregnant women.
      Methods  The genotype and allele frequencies of CYP7A1-204A/C gene polymorphism of 1037 normal pregnant women, the normal controls, and 627 pregnant women with GDM were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and blood glucose (Glu) were measured by enzymatic assay. Chemiluminescence determination of plasma insulin (Ins) was conducted. Apolipoproteins A1 (apoA1) and B (apoB) were measured by the turbidimetric immunoassay.
      Results  Allele frequencies of A and C at the CYP7A1-204A/C polymorphic locus were 0.586 and 0.414, respectively, in the GDM group and 0.557 and 0.443, respectively in the control group. The distribution of genotype frequencies in both groups showed conformity with the Hardy-Weinberg principle. There was no significant difference in allele and genotype frequencies between the GDM group and the control group. In the control group, carriers of the genotype AA were associated with significantly higher concentrations of apoA1 and lower levels of Ins and homeostatic model assessment of insulin resistance (HOMA-IR) compared with those with genotype CC (all P<0.05). In the non-obese subgroup of the control subjects, carriers of the genotype CC were associated with significantly higher plasma TG or apoA1 levels compared with those with genotype AA (P<0.05). In the GDM group, carriers with genotype AA of CYP7A1-204A/C polymorphism had elevated levels of gestational weight gain (GWG) compared with those with genotype CC (P<0.05).
      Conclusion  These results suggest that 204A/C polymorphism in the CYP7A1 gene is not associated with GDM, but may be closely associated with gestational weight gain in pregnant women with GDM. Variants in this locus are strongly associated with plasma apoA1, Ins, and HOMA-IR levels in the controls and elevated plasma TG levels in non-obese controls.

     

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