与勃起功能障碍相关的遗传因素——孟德尔随机化分析。

IF 1.5 Q3 UROLOGY & NEPHROLOGY
American journal of clinical and experimental urology Pub Date : 2025-02-15 eCollection Date: 2025-01-01 DOI:10.62347/BVHS3637
Zejie Qu, Yurong Li, Quangang Yuan, Siming Yang
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引用次数: 0

摘要

背景:研究已经确立了勃起功能障碍(ED)与遗传因素之间的紧密联系。然而,与ED相关的遗传保护基因尚未被确定。在这项研究中,我们使用孟德尔随机化(Mendelian randomization, MR)分析方法来研究ed相关的潜在遗传保护基因。方法:我们使用来自芬兰数据库的ed相关GWAS数据和全血表达数量性状位点(eQTLs)数据进行分析,其中包括1154例病例和94024例对照,共95,178例个体进行孟德尔随机化(Mendelian randomization, MR)分析。为了进一步确定潜在的致病基因,探索其功能作用及其与表型的关系,我们使用GSE206528数据集进行了PPI和单细胞分析。结果:MR分析鉴定出263个与ED相关的基因,其中TRIP10的相关程度最高,比值比(OR)为0.58。TRIP10位于7号染色体上,在ED中起保护作用。单细胞测序分析显示,TRIP10在内皮细胞和组织干细胞中表达量最高,尤其是在内皮细胞中。通过PPI和单细胞分析,我们进一步确定了潜在的致病基因,揭示了它们的功能及其与表型的联系。结论:我们的研究发现,在与ED相关的263个基因中,TRIP10与ED风险降低密切相关。这些发现从遗传学角度为ED的个性化治疗提供了有价值的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic factors associated with erectile dysfunction- mendelian randomisation analysis.

Background: Studies have established a strong link between erectile dysfunction (ED) and genetic factors. However, the genetic protective genes associated with ED have yet to be identified. In this study, we used Mendelian randomization (MR) analysis to investigate potential genetic protective genes related to ED.

Methods: We used ED-associated GWAS data and whole blood expression quantitative trait loci (eQTLs) data from the Finnish database, which included 1,154 cases and 94,024 controls, for our analysis, resulting in a total of 95,178 individuals for Mendelian randomization (MR) analysis. To further identify potential causative genes and explore their functional roles and relationship to phenotype, we conducted PPI and single-cell analysis using the GSE206528 dataset.

Results: The MR analysis identified 263 genes associated with ED, with TRIP10 showing the highest degree, exhibiting an odds ratio (OR) of 0.58. Located on chromosome 7, TRIP10 plays a protective role in ED. Single-cell sequencing analysis revealed that TRIP10 is most highly expressed in endothelial cells and tissue stem cells, particularly in endothelial cells. Through PPI and single-cell analysis, we further identified potential causative genes, shedding light on their functions and their connection to the phenotype.

Conclusions: Our study found that among the 263 genes associated with ED, TRIP10 was strongly linked to a decreased risk of ED. These findings offer valuable insights for the personalized treatment of ED from a genetic perspective.

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