Kasyan G R, Vishnevskii D A, Akulenko L V, Kozlova Yu O, Sharova E I, Tupikina N V, Pushkar' D Yu
Department of Urology, A.I. Evdokimov Moscow State University of Medicine and Dentistry, Moscow, Russia.
Department of Medical Genetics, A.I. Evdokimov Moscow State University of Medicine and Dentistry, Moscow, Russia.
Urologiia. 2017 Dec(6):30-33.
Collagen type I and III have a significant role in the development of pelvic organ prolapse (POP) and urinary incontinence in women. The role of the COL3A1 gene polymorphism remains debatable. Some studies and meta-analyzes have found a direct correlation between genetic defects and POP, while other researchers have not confirmed this association. This study aimed to investigate the association of the 1800255 COL3A1 gene polymorphism with the development of POP and urinary incontinence in women.
The study group comprised 52 patients (mean age 64.4 years) with verified POP and stress urinary incontinence. The control group included 21 patients without pelvic floor dysfunction. Patients were comparable in age and had at least one or more risk factors for developing pelvic floor dysfunction. Exclusion criteria for both groups were Marfan and Ehlers-Danlos syndromes and a history of surgery for POP or incontinence (for the control group). In all women, saliva samples were collected to detect polymorphism at the rs1800255 locus of the COL3A1 gene. Genotyping was conducted by Sanger sequencing.
In patients with isolated genital prolapse, homozygous polymorphism (AA) had a low sensitivity (0.06) but an extremely high specificity (0.95). Heterozygote (GA) had the sensitivity of 0.35, the specificity of 0.53, and the AUC of 0.44. For urinary incontinence by homozygote (AA), sensitivity was 0.08, specificity 0.96, and by heterozygote (GA) 0.45 and 0.63, respectively. For the combination of pelvic prolapse and urinary incontinence by homozygote (AA), sensitivity was 0.07, specificity 1.0, and heterozygote (GA) 0.41 and 0.62, respectively.
Given the high specificity of the polymorphism at the rs1800255 locus of the COL3A1 gene, determined by the Sanger sequencing, it can be concluded that there is an association between this polymorphism and urinary incontinence and POP in women.
I型和III型胶原蛋白在女性盆腔器官脱垂（POP）和尿失禁的发生发展中起重要作用。COL3A1基因多态性的作用仍存在争议。一些研究和荟萃分析发现基因缺陷与POP之间存在直接关联，而其他研究人员并未证实这种关联。本研究旨在探讨1800255 COL3A1基因多态性与女性POP和尿失禁发生发展之间的关联。
研究组包括52例经证实患有POP和压力性尿失禁的患者（平均年龄64.4岁）。对照组包括21例无盆底功能障碍的患者。患者年龄相仿，且至少有一个或多个发生盆底功能障碍的危险因素。两组的排除标准均为马凡综合征和埃勒斯-当洛综合征，以及有POP或尿失禁手术史（对照组）。对所有女性采集唾液样本，以检测COL3A1基因rs1800255位点的多态性。采用桑格测序法进行基因分型。
在单纯生殖器脱垂患者中，纯合子多态性（AA）敏感性低（0.06）但特异性极高（0.95）。杂合子（GA）的敏感性为0.35，特异性为0.53，曲线下面积（AUC）为0.44。对于尿失禁，纯合子（AA）的敏感性为0.08，特异性为0.96，杂合子（GA）的敏感性分别为0.45和0.63。对于盆腔脱垂和尿失禁的组合，纯合子（AA）的敏感性为0.07，特异性为1.0，杂合子（GA）的敏感性分别为0.41和0.62。
鉴于通过桑格测序确定的COL3A1基因rs1800255位点多态性具有高特异性，可以得出结论，这种多态性与女性尿失禁和POP之间存在关联。
