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ACE I/D基因变异对PCOS患者临床指标的影响

马菀笛 范平 刘宏伟 刘青青 胡开峰 白怀 李遂焰

马菀笛, 范平, 刘宏伟, 等. ACE I/D基因变异对PCOS患者临床指标的影响[J]. 四川大学学报(医学版), 2021, 52(5): 877-882. doi: 10.12182/20210960207
引用本文: 马菀笛, 范平, 刘宏伟, 等. ACE I/D基因变异对PCOS患者临床指标的影响[J]. 四川大学学报(医学版), 2021, 52(5): 877-882. doi: 10.12182/20210960207
MA Wan-di, FAN Ping, LIU Hong-wei, et al. Clinical Study of the Impact of ACE I/D Gene Variation on the Clinical Parameters of Patients with Polycystic Ovary Syndrome[J]. JOURNAL OF SICHUAN UNIVERSITY (MEDICAL SCIENCE EDITION), 2021, 52(5): 877-882. doi: 10.12182/20210960207
Citation: MA Wan-di, FAN Ping, LIU Hong-wei, et al. Clinical Study of the Impact of ACE I/D Gene Variation on the Clinical Parameters of Patients with Polycystic Ovary Syndrome[J]. JOURNAL OF SICHUAN UNIVERSITY (MEDICAL SCIENCE EDITION), 2021, 52(5): 877-882. doi: 10.12182/20210960207

ACE I/D基因变异对PCOS患者临床指标的影响

doi: 10.12182/20210960207
基金项目: 国家自然科学基金(No. 81370681)资助
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    通讯作者:

    E-mail:lisuiyan@swjtu.edu.cn

Clinical Study of the Impact of ACE I/D Gene Variation on the Clinical Parameters of Patients with Polycystic Ovary Syndrome

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  • 摘要:   目的  探讨血管紧张素Ⅰ转换酶(angiotensin Ⅰ-converting enzyme, ACE)的基因I/D多态性与多囊卵巢综合征(polycystic ovary syndrome, PCOS)发病的遗传风险的关系,评价该基因变异对PCOS患者临床特征、激素、代谢和氧化应激指标的影响。  方法  采用回顾性病例-对照研究,选择2006−2019年在四川大学华西第二医院生殖内分泌科门诊就诊的17~44岁PCOS患者1 020例及同期就诊的对照妇女825例纳入研究,使用聚合酶链反应(PCR)和琼脂糖凝胶电泳对ACE I/D基因进行分型。选择PCOS组667例和对照组527例进行基因型与生殖激素、糖脂代谢和氧化应激相关指标分析。  结果  对照组与PCOS组基因型频率分布均符合Hardy-Weinberg平衡(P均>0.05),具有群体代表性。PCOS组与对照组间基因型和等位基因频率差异无统计学意义。在调整年龄和体质量指数之后,无论是在PCOS组内还是在对照组内,各基因型间临床特征差异均无统计学意义。在PCOS组中,与II基因型亚组比较,ID基因型亚组有更低的黄体生成素(luteinizing hormone, LH)/卵泡刺激素(follicle-stimulating hormone, FSH)比值,DD基因型亚组稳态模型胰岛素抵抗指数(homeostatic model assessment of insulin resistance, HOMA-IR)与血清丙二醛(malondialdehyde, MDA)水平增高;与ID基因型亚组比较,DD基因型亚组血清性激素结合球蛋白(sex hormone-binding globulin, SHBG)水平降低,但总胆固醇(total cholesterol, TC)与低密度脂蛋白胆固醇(low-density lipoprotein cholesterol, LDL-C)水平增高。在对照组中,II基因型亚组比DD基因型亚组具有更高的血清总氧化状态(total oxidant status, TOS)水平。  结论  ACE基因I/D变异不是PCOS发生的遗传危险因素。ACE基因I/D变异可能与PCOS患者胰岛素抵抗、异常脂血症、高雄激素血症和氧化应激的发生有关。
  • 表  1  PCOS与对照组之间ACE基因I/D基因型和等位基因频率分布

    Table  1.   Frequencies of ACE gene I/D genotype and allele in PCOS patients compared with the controls

    IndexFrequencies (case)
    Controls
    (n=825)
    PCOS patients
    (n=1 020)
    χ2/P
    Genotype χ2=0.881,P=0.644
     II 0.425 (351) 0.421 (429)
     ID 0.456 (376) 0.446 (455)
     DD 0.119 (98) 0.133 (136)
    Allele χ2=0.377,P=0.539
     I 0.653 (1 078) 0.644 (1 313)
     D 0.347 (572) 0.356 (727)
    下载: 导出CSV

    表  2  ACE I/D多态性不同基因型亚组间临床特征的比较

    Table  2.   Comparison of clinical features of different genotypes of ACE I/D polymorphism subgroups

    IndexControlsPCOS patients
    Total (n=825)II (n=229)ID (n=241)DD (n=57)Total (n=1 020)II (n=274)ID (n=298)DD (n=95)
    Age/yr. 28.22±4.10 27.53±3.98 28.05±4.13 29.44±4.32 25.08±4.20# 25.02±4.12 25.02±4.18 25.00±4.74
    BMI/(kg/m2) 21.17±2.86 21.06±2.75 21.03±2.59 20.99±3.18 22.90±4.03# 22.82±4.11 23.51±4.30 23.28±4.44
    WC/cm 73.79±8.13 73.29±8.34 73.47±7.60 73.68±9.12 79.19±11.05# 78.70±11.22 80.94±11.32 80.43±11.91
    WHR 0.82±0.06 0.81±0.06 0.81±0.06 0.81±0.06 0.85±0.07# 0.85±0.08 0.86±0.07 0.86±0.07
    F-G score 0.26±0.76 0.28±0.76 0.26±0.75 0.11±0.36 1.71±2.04# 1.72±2.02 1.71±2.09 1.70±2.08
    Acne grade score 0.14±0.35 0.15±0.36 0.14±0.35 0.07±0.26 0.64±0.89# 0.69±0.91 0.59±0.89 0.70±0.94
    SBP/mmHg 112.62±11.36 112.14±10.72 112.69±10.82 112.95±13.61 114.25±10.51# 113.97±10.09 115.88±11.10 113.99±10.89
    DBP/mmHg 73.56±8.91 73.74±8.45 73.33±8.36 72.33±8.99 75.43±8.72# 75.48±9.51 76.47±8.47 74.34±8.91
    Ovarian volume/cm3 7.40±2.75 7.18±2.46 8.15±3.12 7.13±2.07 9.91±4.05# 10.24±4.02 10.04±4.14 10.15±3.90
     BMI: Body mass index; WC: Waist circumference; WHR: Waist-hip ratio; F-G score: Ferriman-Gallwey score; SBP: Systolic blood pressure; DBP: Diastolic blood pressure. 1 mmHg=0.133 kPa. # P<0.05, vs. total controls.
    下载: 导出CSV

    表  3  ACE I/D多态性不同基因型亚组间代谢水平的比较

    Table  3.   Comparison of metabolic levels of different genotypes of ACE I/D polymorphisms subgroups

    IndexControls PCOS patients
    Total (n=825)II (n=229)ID (n=241)DD (n=57)Total (n=1 020)II (n=274)ID (n=298)DD (n=95)
    Fasting Ins/(pmol/L) 62.30±35.71 62.18±36.81 63.42±35.41 58.05±32.72 105.15±71.82# 97.35±58.32 110.28±75.88 112.05±91.48
    Fasting Glu/(mmol/L) 5.23±0.47 5.23±0.47 5.26±0.45 5.18±0.59 5.36±0.86 5.32±0.62 5.34±0.85 5.48±1.35
    HOMA-IR 2.21±1.29 2.23±1.30 2.24±1.31 2.09±1.12 3.78±3.06# 3.43±2.31 3.93±3.18 4.29±4.31§
    TG/(mmol/L) 1.04±0.89 1.00±0.63 1.09±1.15 0.98±0.38 1.44±1.38# 1.43±1.39 1.41±1.03 1.58±2.12
    TC/(mmol/L) 4.25±0.72 4.26±0.68 4.25±0.74 4.24±0.78 4.42±0.81# 4.44±0.80 4.35±0.83 4.61±0.75
    HDL-C/(mmol/L) 1.51±0.32 1.51±0.32 1.50±0.32 1.52±0.36 1.38±0.34# 1.40±0.34 1.35±0.32 1.40±0.41
    LDL-C/(mmol/L) 2.36±0.63 2.38±0.62 2.35±0.64 2.34±0.67 2.56±0.76# 2.54±0.75 2.54±0.77 2.71±0.73
     Glu: Glucose; HDL-C: High-density lipoprotein cholesterol; HOMA-IR: Homeostatic model assessment of insulin resistance; Ins: Insulin; LDL-C: Low-density lipoprotein cholesterol; TC: Total cholesterol; TG: Triglycerides. Comparisons of all parameters were corrected for differences in age and BMI between the two subgroups, except for the parameters of age and BMI. △P <0.05, vs. the ID genotype subgroup in PCOS patients; §P<0.05, vs. the II genotype subgroup in PCOS patients. #P<0.05, vs. total controls.
    下载: 导出CSV

    表  4  ACE I/D多态性不同基因型亚组间激素和氧化应激水平的比较

    Table  4.   Comparison of hormone and oxidative stress levels between different genotypes of ACE I/D polymorphism subgroups

    IndexControlsPCOS patients
    Total (n=825)II (n=229)ID (n=241)DD (n=57)Total (n=1 020)II (n=274)ID (n=298)DD (n=95)
    Hormonal levels
     TT/(nmol/L) 1.47±0.52 1.49±0.50 1.47±0.53 1.41±0.51 2.34±0.77# 2.34±0.73 2.35±0.82 2.31±0.73
     SHBG/(nmol/L) 55.06±27.26 58.62±28.23 51.84±24.89 55.70±31.94 33.49±19.26# 34.97±18.63 33.28±20.37 29.82±16.98
     FAI 3.26±2.07 3.08±1.99 3.42±2.07 3.26±2.36 9.76±7.03# 8.94±6.39 10.20±7.36 10.73±7.56
     LH/FSH 1.18±1.30 1.21±0.98 1.15±1.29 1.19±0.94 2.26±1.23# 2.38±1.26 2.12±1.18§ 2.34±1.25
    Oxidative stress parameters
     TOS/(nmol H2O2 Equiv./mL) 11.48±5.38 12.01±5.35 11.26±5.69 10.20±3.83* 15.13±10.58# 15.40±11.67 14.61±8.94 15.95±11.93
     T-AOC/(U/mL/min) 14.51±2.67 14.64±2.48 14.48±2.71 14.16±3.18 15.77±3.09# 15.80±3.11 15.78±3.07 15.64±3.10
     OSI 0.80±0.41 0.82±0.39 0.79±0.45 0.73±0.29 0.99±0.79# 0.99±0.79 0.97±0.78 1.04±0.81
     MDA/(nmol/mL) 3.70±1.09 3.79±1.08 3.66±1.12 3.51±1.02 4.37±1.32# 4.25±1.32 4.42±1.32 4.55±1.29§
     FAI: Free androgen index; FSH: Follicle-stimulating hormone; LH: Luteinizing hormone; MDA: Malondialdehyde; OSI: Oxidative stress index; SHBG: Sex hormone-binding globulin; T-AOC: Total antioxidant capacity; TOS: Total oxidant status; TT: Total testosterone. Comparisons of all parameters were corrected for differences in age and BMI between the two subgroups. * P<0.05, vs. the II genotype subgroup in controls; △ P<0.05, vs. the ID genotype subgroup in PCOS patients; § P<0.05, vs. the II genotype subgroup in PCOS patients; # P<0.05, vs. total controls.
    下载: 导出CSV
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出版历程
  • 收稿日期:  2020-12-21
  • 修回日期:  2021-08-20
  • 网络出版日期:  2021-12-06
  • 刊出日期:  2021-09-20

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