Division of Urogynecology and Reconstructive Pelvic Surgery, Federal University of São Paulo, São Paulo, Brazil.
Neurourol Urodyn. 2020 Sep;39(7):1977-1984. doi: 10.1002/nau.24447. Epub 2020 Jul 21.
Verify the presence of the single nucleotide polymorphisms rs1800012 of the collagen I (COL1A1) and rs1800255 of the collagen III (COL3A1) genes and their association with pelvic organ prolapse (POP) in Brazilian women and to determine risk factors for POP.
We assessed 826 postmenopausal women divided into POP (stages III and IV) and control groups (stages 0 and I) by examination and peripheral blood sample collection. DNA sequences of interest were analyzed by real-time reverse-transcriptase polymerase chain reaction. We used logistic regression analyses, recessive and codominance models of inheritance, and P < .05 for significance.
Six-hundred and thirty-four postmenopausal women were included: 348 (54.8%) POP cases and 286 (45.1%) controls. The frequencies of GG, GA, and AA genotypes for COL1A1 were 69.12%, 20.24%, and 10.59% in POP group and 71.79%, 20%, and 8.21% in controls; GG, GT, and TT for COL3A1 were 37.54%, 59.53%, and 2.93% in POP group and 36.24%, 60.14%, and 3.62% in controls. There were no genotypic or allelic association with POP phenotype that link both SNPs rs1800012 and rs1800255 to increased risk of POP. Vaginal delivery (odds ratio [OR] = 13; 95% confidence interval [CI] [4.00-47.08]), POP family history (OR = 3.1; 95% CI [1.49-6.50]), diabetes mellitus (OR = 2.3; 95% CI [1.08-5.21]), number of pregnancies (OR = 1.2; 95% CI [1.05-1.36]), and age (OR = 1.1; 95% CI [1.09-1.19]), were variables of increased risk for POP (P < .05 for all).
Our study suggests lack of association between DNA polymorphisms rs1800012 of COL1A1 and rs1800255 of COL3A1 with advanced POP. Vaginal delivery, POP family history, diabetes mellitus, number of pregnancies, and age are risk factors for POP.
验证胶原蛋白 I (COL1A1) 的 rs1800012 单核苷酸多态性和胶原蛋白 III (COL3A1) 的 rs1800255 单核苷酸多态性在巴西女性中的存在及其与盆腔器官脱垂 (POP) 的关联，并确定 POP 的危险因素。
我们评估了 826 名绝经后妇女，通过检查和外周血样采集将其分为 POP（III 期和 IV 期）和对照组（0 期和 I 期）。通过实时逆转录酶聚合酶链反应分析感兴趣的 DNA 序列。我们使用逻辑回归分析、隐性和共显性遗传模型以及 P<.05 用于显著性检验。
共纳入 634 名绝经后妇女：POP 病例 348 例（54.8%），对照组 286 例（45.1%）。COL1A1 的 GG、GA 和 AA 基因型频率在 POP 组分别为 69.12%、20.24%和 10.59%，在对照组分别为 71.79%、20%和 8.21%；COL3A1 的 GG、GT 和 TT 基因型频率在 POP 组分别为 37.54%、59.53%和 2.93%，在对照组分别为 36.24%、60.14%和 3.62%。没有与 POP 表型相关的基因型或等位基因关联，即这两个 SNP(rs1800012 和 rs1800255)都与 POP 风险增加无关。阴道分娩（比值比[OR] = 13；95%置信区间[CI] [4.00-47.08]）、POP 家族史（OR = 3.1；95% CI [1.49-6.50]）、糖尿病（OR = 2.3；95% CI [1.08-5.21]）、妊娠次数（OR = 1.2；95% CI [1.05-1.36]）和年龄（OR = 1.1；95% CI [1.09-1.19]）是 POP 的危险因素（所有 P<.05）。
本研究提示 COL1A1 的 rs1800012 多态性和 COL3A1 的 rs1800255 多态性与晚期 POP 无关联。阴道分娩、POP 家族史、糖尿病、妊娠次数和年龄是 POP 的危险因素。
