子宫内膜异位症中与+331G/A多态性相关的孕酮受体亚型的差异表达：一项病例对照研究。
Differential expression of progesterone receptor isoforms related to +331g/a polymorphism in endometriosis: A case-control study.
作者信息
Mousazadeh Sepideh, Ghaheri Azadeh, Shahhoseini Maryam, Aflatoonian Reza, Afsharian Parvaneh
机构信息
Department of Tissue Engineering and Regenerative Medicine, Faculty of Advanced Technologies in Medicine, Iran University of Medical Sciences, Tehran, Iran.
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
出版信息
Int J Reprod Biomed. 2019 May 5;17(3):185-94. doi: 10.18502/ijrm.v17i3.4517. eCollection 2019 Mar.
BACKGROUND
Endometriosis are defined as a progesterone-resistance disease. Two progesterone receptor (PR) isoforms, namely PR-A and PR-B, mediate the special effects of progesterone. One of the most effective polymorphism in the promoter region of is the +331G/A.
OBJECTIVE
The differential expression level of PR isoforms due to +331G/A polymorphism may be able to influence the function of progesterone and reduce the susceptibility of endometriosis.
MATERIALS AND METHODS
This analytic, case-control study was carried out at Royan Institute, Tehran, Iran. Whole-blood samples were collected from 98 infertile women undergoing laparoscopy for endometriosis and 102 healthy fertile women. After DNA extraction, genotype frequencies were determined by polymerase chain reaction-restriction fragment length polymorphism. Then, RNA was extracted from the selected eutopic tissue samples of endometriosis patients. Analysis of PR-A and PR-B mRNA expressions were performed using Real-time polymerase chain reaction.
RESULTS
The frequency distribution of GG, GA genotypes in +331G/A polymorphism was 98.04%, 1.96% in the patients and 97.96%, 2.04% in the control groups, respectively (p = 0.968). Although our data did not show any significant association with +331G/A in the patient and control groups, we were able to demonstrate significantly higher expression level of PR-B and no significant lower expression level of PR-A isoforms in patients by favoring GA to GG genotypes (p = 0.017, p = 0.731, respectively).
CONCLUSION
Our findings show that patients with GA genotypes had a higher expression level of PR-B compared to patients with GG genotypes.
背景
子宫内膜异位症被定义为一种孕激素抵抗性疾病。两种孕激素受体（PR）亚型，即PR-A和PR-B，介导孕激素的特殊作用。其中最有效的多态性之一存在于的启动子区域，即+331G/A。
目的
由于+331G/A多态性导致的PR亚型差异表达水平可能会影响孕激素的功能，并降低子宫内膜异位症的易感性。
材料与方法
这项分析性病例对照研究在伊朗德黑兰的罗扬研究所进行。从98名因子宫内膜异位症接受腹腔镜检查的不孕女性和102名健康的可育女性中采集全血样本。DNA提取后，通过聚合酶链反应-限制性片段长度多态性确定基因型频率。然后，从子宫内膜异位症患者选定的在位组织样本中提取RNA。使用实时聚合酶链反应进行PR-A和PR-B mRNA表达分析。
结果
+331G/A多态性中GG、GA基因型的频率分布在患者组分别为98.04%、1.96%，在对照组分别为97.96%、2.04%（p = 0.968）。尽管我们的数据未显示患者组和对照组与+331G/A有任何显著关联，但我们能够证明，与GG基因型相比，GA基因型患者的PR-B表达水平显著更高，而PR-A亚型的表达水平没有显著降低（分别为p = 0.017，p = 0.731）。
结论
我们的研究结果表明，与GG基因型患者相比，GA基因型患者的PR-B表达水平更高。
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