探究西非加纳子宫肌瘤发病的遗传和环境因素

Tosin Senbadejo, Isawumi Abiola, Lily Paemka
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摘要

子宫肌瘤(UF)是最常见的良性肿瘤,影响着全球数百万妇女,在育龄妇女中的发病率高达 70%。子宫肌瘤与各种并发症有关,如反复手术、不孕、贫血和妊娠失败。值得注意的是,非洲裔妇女的症状和并发症往往更为严重。尽管激素、生长因子和基因改变与宫外孕广泛相关,但其确切的发病机制尚未完全明了。最近的证据表明,微生物群的改变可能是诱发尿频的潜在风险因素。微生物区系的改变可通过宿主细胞的表观遗传学变化或入侵产生的毒性效应导致肿瘤发生。缺乏根治性药物治疗给 UF 患者带来了巨大挑战。患者通常需要接受切除子宫或肿瘤的手术,这可能会对生育能力产生负面影响。此外,子宫肌瘤的诊断依赖于昂贵的成像技术,如超声波,而这在发展中国家可能并不容易获得。此外,诊断往往是在患者症状变得严重之后才进行的。虽然晚期就诊可能会导致非洲女性子宫肌瘤患者出现严重症状和并发症,但影响其严重程度和增加其发病率的其他因素仍不为人所知。在加纳等高危人群中全面评估诱发尿频的因素,可以更好地了解疾病的发病机制。因此,本研究旨在评估与 UF 相关的人口统计学因素、子宫微生物群失调对 UF 肿瘤发生的作用,以及加纳人群中与 UF 相关的分子标记物。研究将获取流行病学数据和临床样本(组织、血液和宫颈阴道拭子)。样本特征描述将包括元基因组学、全基因组测序、SNP 功能验证和 SNP 基因分型。将使用 PLINK v.1.9 进行回归分析,评估风险等位基因与疾病表型的关联。研究结果将提供有关潜在疾病标志物的信息,以便对高风险人群的尿毒症采取更好的管理策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Probing Genetics and Environmental Factors underlying Uterine Fibroid Tumorigenesis in Ghana, West Africa
Uterine fibroid (UF) is the most prevalent benign tumour that affects millions of women globally, with a high incidence of 70% amongst women of reproductive age. UF has been associated with various complications, such as recurrent surgeries, infertility, anemia and pregnancy loss. Notably, women of African descent often experience more severe symptoms and complications. Although hormones, growth factors, and genetic alterations are widely associated with UF, the precise mechanism underlying its pathogenesis is not fully understood. Recent evidence suggests altered microbiota may serve as a potential risk factor for UF development. Altered microbiota can contribute to tumorigenesis via epigenetic changes to host cells or toxic effects from invasion. The lack of curative-drug treatment poses significant challenges to patients with UF. Patients often undergo surgeries that require the removal of the uterus or tumour, which can negatively impact fertility. Furthermore, uterine fibroids’ diagnosis relies on expensive imaging technologies such as ultrasound, which may not be readily available in developing countries. Moreso, diagnosis is often conducted only after patients’ symptoms become severe. Although late presentation may contribute to severe symptoms and complications among women with UF in Africa, other factors that influence severity and increase incidence in this population remain unknown. A comprehensive assessment of UF predisposing factors in high-risk populations such as Ghana could give better insights into disease pathogenesis. Hence, this study aims to assess: UF-associated demographic factors, the role of uterine microbiota dysbiosis on UF tumorigenesis; and molecular markers associated with UF in the Ghanaian population. Epidemiological data and clinical samples (tissues, blood and cervico-vaginal swabs) will be obtained. The characterization of samples will involve metagenomics, whole genome sequencing, functional validation of SNPs and SNP genotyping. The association of risk alleles with disease phenotypes will be assessed via regression analysis using PLINK v.1.9. The findings will provide information on potential disease markers that can be explored for better management strategies for UF in high-risk populations.
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