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胶原 1A1 型、3A1 型和 LOXL1/4 多态性作为盆腔器官脱垂的危险因素。

Collagen type 1A1, type 3A1, and LOXL1/4 polymorphisms as risk factors of pelvic organ prolapse.

机构信息

Department of Urology, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan.

Department of Systems Physiology, Graduate School of Medicine, University of the Ryukyus, 207 Uehara Nishihara, Okinawa, Japan.

出版信息

BMC Res Notes. 2021 Jan 7;14(1):15. doi: 10.1186/s13104-020-05430-6.

Abstract

OBJECTIVE

Collagen and elastin are the main components of the female pelvic tissue. We investigated whether single nucleotide polymorphisms (SNPs) of collagen type 1 alpha 1 (COL1A1), collagen type 3 alpha 1 (COL3A1), and lysyl oxidase-like (LOXL) 1 and 4 were associated with the onset of pelvic organ prolapse (POP) in Japanese women. Fifty-two women with POP and 28 women without POP were included. SNPs were identified using the TaqMan® SNP genotyping assay.

RESULTS

Age, parity, and lower urinary tract symptoms were significantly higher in the POP group than in the control group. The prevalence of genotypes with rs2862296 polymorphism of LOXL4, an enzyme essential for extracellular matrix remodeling, was different between the POP (26.9% for GG, 51.9% for AG) and control groups (14.8% for GG, 33.3% for AG). However, polymorphisms of COL1A1, COL3A1, and LOXL1 were not related to the onset of POP. In the multivariate logistic regression analysis, age was significantly associated with the occurrence of POP. In the univariate analysis, LOXL4 polymorphism was associated with the onset of POP in Japanese women. The knowledge of acquired risk factors and polymorphisms in the genomic background of patients with POP may help prevent POP via early conservative interventions.

摘要

目的

胶原蛋白和弹性蛋白是女性盆体组织的主要成分。我们研究了胶原蛋白 1 型 α1(COL1A1)、胶原蛋白 3 型 α1(COL3A1)和赖氨酰氧化酶样 1 和 4(LOXL)的单核苷酸多态性(SNPs)是否与日本女性盆腔器官脱垂(POP)的发病有关。共纳入 52 例 POP 患者和 28 例无 POP 患者。使用 TaqMan® SNP 基因分型检测法鉴定 SNPs。

结果

POP 组的年龄、产次和下尿路症状明显高于对照组。细胞外基质重塑所必需的酶 LOXL4 的 rs2862296 多态性的基因型在 POP 组(GG 为 26.9%,AG 为 51.9%)和对照组(GG 为 14.8%,AG 为 33.3%)之间存在差异。然而,COL1A1、COL3A1 和 LOXL1 的多态性与 POP 的发病无关。在多变量逻辑回归分析中,年龄与 POP 的发生显著相关。在单变量分析中,LOXL4 多态性与日本女性 POP 的发病有关。了解获得性危险因素和 POP 患者基因组背景中的多态性可能有助于通过早期保守干预预防 POP。

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Genetic epidemiology of pelvic organ prolapse: a systematic review.盆腔器官脱垂的遗传流行病学:一项系统综述。
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