Skorupski Paweł, Miotła Paweł, Jankiewicz Katarzyna, Rechberger Tomasz
II Katedra i Klinika Ginekologii, Akademia Medyczna w Lublinie.
Ginekol Pol. 2007 Nov;78(11):852-5.
Polymorphism of the gene encoding alpha-1 chain of type I collagen (COL1A1) may influence the mechanical properties of the pelvic floor connective tissue.
We examined possible role of G-->T substitution in transcription factor Sp1 binding site in the gene encoding alpha-1 chain of type I collagen (COL1A1) in the development of pelvic organ prolapse.
The study group consisted of 37 women with pelvic floor defects graded according POPQ scale as stage II, III and IV. All study group patients underwent reconstructive surgery of the pelvic floor. We enrolled forty control subjects. All of them were treated for benign gynecological conditions other then stress urinary incontinence or pelvic organ prolapse. DNA was obtained from peripheral blood leukocytes. The fragment of the first intron of COL1A1 gene containing Sp1 binding site was amplified by PCR and analysis of restriction fragment length polymorphism was done.
The GG polymorphism in COL1A1 gene was identified in 26 (70.3%), GT sequence in 10 (27%) and TT in 1 (2.7%) patient. The distribution of the investigated polymorphisms in the control group were: 27 (67.5%), 9 (22.5%) and 4 (10%), respectively. We do not found association between investigated polymorphic variants and pelvic organ prolapse (chi2 test, p=ns).
G-->T substitution in transcription factor Sp1 binding site in the COLIA1 gene does not increase the risk of development of pelvic floor defect (POPQ stages II, III, IV).
I型胶原蛋白α-1链(COL1A1)编码基因的多态性可能会影响盆底结缔组织的力学性能。
我们研究了I型胶原蛋白α-1链(COL1A1)编码基因中转录因子Sp1结合位点的G→T替换在盆腔器官脱垂发生过程中的可能作用。
研究组由37例盆底缺陷患者组成,根据盆腔器官脱垂定量分期系统(POPQ)分为II期、III期和IV期。所有研究组患者均接受了盆底重建手术。我们招募了40名对照受试者。他们均因非压力性尿失禁或盆腔器官脱垂的良性妇科疾病接受治疗。从外周血白细胞中提取DNA。通过聚合酶链反应(PCR)扩增COL1A1基因第一个内含子中包含Sp1结合位点的片段,并进行限制性片段长度多态性分析。
COL1A1基因中GG多态性在26例(70.3%)患者中被鉴定出来,GT序列在10例(27%)患者中被鉴定出来,TT在1例(2.7%)患者中被鉴定出来。对照组中所研究多态性的分布分别为:27例(67.5%)、9例(22.5%)和4例(10%)。我们未发现所研究的多态性变体与盆腔器官脱垂之间存在关联(卡方检验,p=无统计学意义)。
COLIA1基因中转录因子Sp1结合位点的G→T替换不会增加盆底缺陷(POPQ II期、III期、IV期)发生的风险。