切换至 "中华医学电子期刊资源库"

中华妇幼临床医学杂志(电子版) ›› 2013, Vol. 09 ›› Issue (01) : 60 -64. doi: 10.3877/cma.j.issn.1673-5250.2013.01.014

所属专题: 文献

论著

CYP19,COMT等位基因突变与子宫内膜异位症和子宫腺肌病的相关性研究
李攀1, 顾振鹏1,*,*(), 刘顺振1, 代培培1, 姚丽娟1   
  1. 1. 256603 山东滨州,滨州医学院附属医院妇产科
  • 收稿日期:2012-09-02 修回日期:2012-11-22 出版日期:2013-02-01
  • 通信作者: 顾振鹏

Correlative Study on Mutant allele of CYP19 240A/G, COMT 1947G/A, Endometriosis and Adenomyosis

Pan LI1, Zhen-peng GU1(), Shun-zhen LIU1, Pei-pei DAI1, Li-juan YAO1   

  1. 1. Department of Gynecology and Obstetrics, Affiliated Hospital of Binzhou Medical College, Binzhou 256603, Shandong Province, China
  • Received:2012-09-02 Revised:2012-11-22 Published:2013-02-01
  • Corresponding author: Zhen-peng GU
  • About author:
    Corresponding author: GU Zhen-peng, Email:
引用本文:

李攀, 顾振鹏, 刘顺振, 代培培, 姚丽娟. CYP19,COMT等位基因突变与子宫内膜异位症和子宫腺肌病的相关性研究[J/OL]. 中华妇幼临床医学杂志(电子版), 2013, 09(01): 60-64.

Pan LI, Zhen-peng GU, Shun-zhen LIU, Pei-pei DAI, Li-juan YAO. Correlative Study on Mutant allele of CYP19 240A/G, COMT 1947G/A, Endometriosis and Adenomyosis[J/OL]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2013, 09(01): 60-64.

目的

探讨山东省滨州地区汉族妇女CYP19基因240A/G,COMT基因1947G/A位点单核苷酸多态性(SNP)与子宫内膜异位症(EMs)和子宫腺肌病(AM)发病的关系。

方法

收集2011年9月至2012年3月于本院妇产科行盆、腹腔手术,并经术后组织病理学检查证实为EMs和AM者80例为研究对象,并将其分别纳入EMs组(n=30)和AM组(n=50),选取同期于本院行盆、腹腔手术并经肉眼及术后组织病理学检查排除EMs和AM者38例纳入对照组。采集其晨空腹外周静脉血(3~4)mL,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测2者基因多态性与EMs和AM发病的关系(本研究遵循的程序符合本院人体试验委员会制定的伦理学标准,得到该委员会批准,分组征得受试对象的知情同意)。

结果

CYP19 240A/G位点各基因型及等位基因分布频率在EMs组,AM组和对照组比较,差异均有统计学意义(P<0.05),其中等位基因G突变可使EMs发病风险增加2.463倍,AM发病风险增加2.705倍,携带AG和GG基因型妇女的EMs发病风险增加4.444倍,AM发病风险增加3.939倍。COMT 1947G/A位点各基因型及等位基因分布频率在EMs组,AM组和对照组比较,差异无统计学意义(P>0.05),携带A等位基因突变的基因型GA+AA分别与野生型GG比较,差异无统计学意义(P>0.05),携带A等位基因的基因型(GA+AA)不能增加EMs和AM发病风险。

结论

滨州地区汉族妇女CYP19基因240A/G等位基因突变,可增加EMs和AM发病风险,而COMT基因1947G/A等位基因突变与EMs和AM发病风险无相关性。

Objective

To investigate the correlation of polymorphism of CYP19 240A/G, COMT 1947G/A, endometriosis (EMs) and adenomyosis (AM).

Methods

From September 2011 to March 2012, thirty cases of EMs and 50 cases of AM were recruited into this study. Meanwhile, thirty-eight cases without EMs and AM were included into control group. The blood were collected from all of them in the morning after the operation. The correlation between the multibus of two genes about EMs and AM was evaluated by PCR-restriction fragment length polymorphism (PCR-RFLP). The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Affiliated Hospital of Binzhou Medical College. Informed consent was obtained from all participates.

Results

There were a significant difference of the alleles and genotype of CYP19 240A/G between EMs group, AM group and control group (P<0.05). The mutant allele of G made relative risk suffered from EMs and AM got 2.463 times, 2.705 times, respectively. The relative risks suffered from EMs and AM of AG and GG genotype were 4.444 and 3.939 times of GG genotype, respectively. There were no significant difference of the alleles and genotype of COMT 1947G/A between EMs group, AM group and control group (P>0.05). There were no significance between the genotype that caught A(GA+ AA)and GG genotype (P>0.05). There was no correlation between GA and AA genotype and the risk suffered from EMs and AM.

Conclusions

The mutant allele of CYP19 240A/G increased the risk suffered from EMs and AM. The mutant allele of COMT 1947A/G had no relationship with the risk of EMs and AM.

表1 CYP19基因240A/G和COMT基因1947G/A引物序列、褪火温度、扩增片段长度
Table 1 The primer sequence, annealing temperature and amplified fragment length of CYP19 240A/G and COMT 1947G/A, respectively
图1 CYP19 240A/G位点各基因型(M: marker;1: AG;2: AA;3: GG)
Figure 1 Each genotype of CYP19 240A/G(M: marker,1: AG;2: AA;3: GG)
图2 COMT 1947G/A位点各基因型(M: marker;1: AA;2: GG;3: GA)
Figure 2 Each genotype of COMT 1947G/A(M: marker;1: AA;2: GG;3: GA)
表2 CYP19,COMT各基因型在EMs组,AM组及对照组中的分布频率[n(%)]
Table 2 Frequency distribution of CYP19,COMT genotypes between EMs group, AM group and control group [n(%)]
表3 CYP19,COMT各等位基因在EMs组,AM组及对照组中的频率分布(%)
Table 3 Frequency distribution of CYP19,COMT alleles between EMs group, AM group and control group (%)
表4 EMs组与对照组CYP19COMT突变型和野生型比较[n(%)]
Table 4 Comparison of mutant and wild type in CYP19COMT between EMs group and control group[n(%)]
表5 AM组与对照组CYP19COMT突变型和野生型比较[n(%)]
Table 5 Comparison of mutant and wild type in CYP19COMT between AM group and control group[n(%)]
[1]
Kitawaki J, Kado N, Ishihara H, et al. Endometriosis:The pathophysiology as an estrogen-dependent disease[J]. J Steroid Biochem Mol Biol, 2002, 83(1-5):149-155.
[2]
Miyoshi T, Iwao K, Ikeda N, et al.Breast cancer risk associated with polymorphism in CYP19 Japanese women[J]. Int J Cancer, 2000, 89(4):325-328.
[3]
Kunuqi H, Nanko S, Ueki A, et al. High and low activity alleles of Catechol-O-methyltransferase gene: Ethnic difference and possible association with Parkinson's disease[J]. Neurosci Lett, 1997, 221(2-3):202-204.
[4]
Yue J, ed. Gynecology and obstetrics. 7th ed[M]. Beijing: People's Medical Publishing House, 2008, 325-326.
[5]
Bischoff F, Simpson JL. Genetic basis of endometriosis[J]. Ann N Y Acad Sci, 2004, 1034:284-299.
[6]
Huber JC, Schneeberger C, Tempfer CB. Genetic modelling of the estrogen metabolism as a risk factor of hormone-dependent disorders[J]. Matufitas, 2002, 42(1):1-12.
[7]
Jefcoate CR, Liehr JG, Santen RJ, et al. Tissue-specific synthesis and oxidative metabolism of estrogens[J]. J Natl Cancer Inst Monogr, 2000, 27:95-112.
[8]
Thompson PA, Ambrosone C. Molecular epidemiology of genetic polymorphisms in estrogen metabolizing enzymes in human breast cancer[J]. J Natl Cancer Inst Monogr, 2000, 27(6):125-134.
[9]
Yang X, Chen SQ, Liu M. Association of the CYP19 gene polymorphism with genetic susceptibility to endometriosis[J]. Chin J Med Genet, 2010, 27(6):692-696.
[10]
Zhang F, Xue SP, Qu YE. Study on the correlation between gene polymorphism of COMT and endometriosis and adenomyosis[J]. J Hebei Normal Univ: Nat Sci Ed, 2011, 35(3):309-312.
[1] 朱成美, 赵巧梅, 邓学东. 经阴道超声联合生理盐水灌注直肠子宫陷凹对腹膜型子宫内膜异位症的诊断价值[J/OL]. 中华医学超声杂志(电子版), 2024, 21(01): 32-36.
[2] 乔林. 子宫内膜异位症鉴别诊断病例分享[J/OL]. 中华妇幼临床医学杂志(电子版), 2024, 20(02): 248-.
[3] 魏丽坤, 张旭红, 罗营, 薛凤霞, 王颖梅, 宋学茹, 田丽娜, 张艳芳, 王艳霞, 田文艳. 卵巢子宫内膜异位囊肿发生恶变并发盆腔脓肿1例并文献复习[J/OL]. 中华妇幼临床医学杂志(电子版), 2023, 19(06): 696-702.
[4] 罗丹, 孔为民, 陈姝宁, 赵小玲, 谢云凯. 子宫内膜异位症患者在位及异位内膜上皮细胞-间充质转化相关生物标志物的变化[J/OL]. 中华妇幼临床医学杂志(电子版), 2023, 19(05): 530-539.
[5] 夏恩兰. 囊性子宫腺肌病与子宫副腔畸形[J/OL]. 中华妇幼临床医学杂志(电子版), 2022, 18(06): 746-746.
[6] 张蕾, 彭超, 周应芳. 直肠阴道隔子宫内膜异位症腹腔镜手术技巧[J/OL]. 中华腔镜外科杂志(电子版), 2024, 17(05): 257-261.
[7] 胡启明, 鄢潇, 尤志学, 黄骁昊. 经瘢痕处单孔腹腔镜下切除多病灶腹壁子宫内膜异位症[J/OL]. 中华腔镜外科杂志(电子版), 2024, 17(05): 314-317.
[8] 王靖, 高建建, 刘平, 陆美荣, 袁永兴, 胡茜, 孙亮亮, 李君亮, 王海琳. 达芬奇机器人辅助单孔腹腔镜在子宫良性疾病的临床应用分析[J/OL]. 中华腔镜外科杂志(电子版), 2023, 16(06): 342-347.
[9] 芦煜, 李振宇, 吴承东, 周仲伍. 肛周子宫内膜异位症一例报告[J/OL]. 中华结直肠疾病电子杂志, 2024, 13(05): 431-434.
[10] 陈娟, 邓静敏. 胸部子宫内膜异位综合征的研究进展[J/OL]. 中华临床医师杂志(电子版), 2024, 18(01): 96-100.
[11] 王丁然, 迟洪滨. 自身免疫甲状腺炎对子宫内膜异位症患者胚胎移植结局的影响[J/OL]. 中华临床医师杂志(电子版), 2023, 17(06): 682-688.
[12] 王宁, 吴慢莉, 杨东霞. 代谢组学生物标志物:子宫内膜异位症诊疗的新靶点[J/OL]. 中华临床医师杂志(电子版), 2022, 16(12): 1280-1283.
[13] 兰素伟, 王春辉, 常丽凤, 王杏茶, 翟明晶, 李阳. 血清miRNA-10b和miRNA-34a在子宫内膜异位症患者中的表达及与术后复发关系研究[J/OL]. 中华临床医师杂志(电子版), 2022, 16(08): 759-763.
[14] 汪泉, 周英妹, 何颖. p27、cyclin-E在子宫内膜异位症中的表达及其临床意义[J/OL]. 中华临床医师杂志(电子版), 2022, 16(06): 546-552.
[15] 洪凡, 陈敦金, 傅洋, 梁新月, 吴毅, 王晓怡. 体外受精-胚胎移植妊娠合并前置胎盘临床研究[J/OL]. 中华产科急救电子杂志, 2024, 13(03): 176-182.
阅读次数
全文


摘要