Section of Urogynecology and Pelvic Surgery, Department of Gynecology, Federal University of São Paulo, São Paulo, Brazil.
Neurourol Urodyn. 2011 Sep;30(7):1325-8. doi: 10.1002/nau.21066. Epub 2011 May 23.
Verify the association between genital prolapse, other risk factors and a polymorphism in exon 31 of the collagen III-a1 gene (COL3A1).
The etiology of genital prolapse is multifactorial, and genetic defects have been proposed. Also, there is evidence that changes in collagen may be responsible for defects in pelvic floor support. The exon 31 polymorphism results in structural changes in the triple helical of the collagen and appears to lead to abnormal synthesis of type III collagen.
Basic science study.
The studied group consisted of 107 patients with stage III and IV genital prolapse (POP-Q). The control group included 209 women with stage 0 and I prolapse.
After extracting genomic DNA from the peripheral blood, the exon 31 COL3A1 polymorphism was typed by restriction fragment length polymorphism analysis.
Association between genital prolapse and exon 31 COL3A1 polymorphism.
No statistically significant differences in genotype and allele frequencies were found between cases and controls (P = 0.75 and 0.66, respectively). Multiple logistic regression analyses identified age (OR = 1.05; 95%CI = 1.01-1.10), BMI (OR = 1.09; 95%CI = 1.01-1.17), presence of at least one vaginal delivery (OR = 7.22; 95%CI = 1.84-28.27), positive family history of POP (OR = 2.27; 95%CI = 1.05-4.93) and a macrosomic foetus (OR = 2.91; 95%CI = 1.24-6.79) as independent risk factors for genital prolapse. In contrast, the number of caesarean deliveries was found to be an independent protective factor (OR = 0.43; 95%CI = 0.24-0.78).
The type III collagen exon 31 polymorphism is not a risk factor for pelvic genital prolapse in this sample.
验证生殖器官脱垂、其他风险因素与 III 型胶原 α1 基因（COL3A1）外显子 31 多态性之间的关联。
生殖器官脱垂的病因是多因素的，有提出遗传缺陷的可能性。此外，有证据表明胶原的变化可能导致骨盆底支撑缺陷。外显子 31 多态性导致胶原三螺旋结构的结构变化，似乎导致 III 型胶原异常合成。
基础科学研究。
研究组包括 107 例 III 期和 IV 期生殖器官脱垂（POP-Q）患者。对照组包括 209 例 0 期和 I 期脱垂的女性。
从外周血中提取基因组 DNA 后，通过限制性片段长度多态性分析对 COL3A1 外显子 31 多态性进行分型。
生殖器官脱垂与 COL3A1 外显子 31 多态性之间的关联。
病例组和对照组的基因型和等位基因频率无统计学差异（P=0.75 和 0.66）。多因素逻辑回归分析确定年龄（OR=1.05；95%CI=1.01-1.10）、BMI（OR=1.09；95%CI=1.01-1.17）、至少一次阴道分娩（OR=7.22；95%CI=1.84-28.27）、POP 阳性家族史（OR=2.27；95%CI=1.05-4.93）和巨大胎儿（OR=2.91；95%CI=1.24-6.79）为生殖器官脱垂的独立危险因素。相比之下，剖宫产次数被认为是独立的保护因素（OR=0.43；95%CI=0.24-0.78）。
在本样本中，III 型胶原外显子 31 多态性不是盆腔生殖器官脱垂的危险因素。
