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肯尼亚内罗毕非洲人群复发性外阴阴道念珠菌病的遗传易感性。

Genetic susceptibility to recurrent vulvovaginal candidiasis in an African population from Nairobi, Kenya.

作者信息

Omosa-Manyonyi Gloria S, Ponce Isis Ricano, Rosati Diletta, Bruno Mariolina, Kamau Nelly W, Obimbo Moses M, Jaeger Martin, van der Ven Andre J A M, Netea Mihai G, Kumar Vinod, Oever Jaap Ten

机构信息

Faculty of Health Sciences, University of Nairobi, PO Box 19676, Nairobi, 00202, Kenya.

Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

出版信息

Sci Rep. 2025 Apr 9;15(1):12149. doi: 10.1038/s41598-025-95772-7.

Abstract

Vulvovaginal candidiasis (VVC) affects 75% of women worldwide at least once in their lifetime, with up to 9% of women experiencing recurrent episodes (RVVC). Genetic differences may play a role in women developing recurrent VVC infections. Thus, we investigated genetic host factors that may increase the risk of RVVC in women from an African population. We conducted a case-control study in women in Nairobi Kenya, to identify genetic risk factors for RVVC. Our genome-wide association study compared women with RVVC (n = 174) to those with acute VVC (n = 157), and with controls (n = 347). The control group included both symptomatic but uninfected women (n = 246) and asymptomatic/healthy women (n = 101). We identified several genomic variants linked to increased RVVC susceptibility (P < 10), with the key ones being SNP rs8181503 found near the MS4A12 gene (P = 9.28 × 10, odds ratio (OR) = 0.46), and SNP rs58936172 located near the TMEM39A gene (P = 8.96 × 10, OR = 2.42). Pathway enrichment analysis revealed enrichment of genetic variants linked to increased risk of RVVC in genes involved in metabolic, disease signalling, and cell adhesion pathways. These included pathways related to gluconeogenesis, fatty acid metabolism, linoleic acid metabolism, pentose phosphate, chemotaxis, and fibroblast growth factor signalling pathways. The genes and pathways identified in our study may help to understand the susceptibility to RVVC in African populations, to improve patient care.

摘要

外阴阴道念珠菌病(VVC)影响着全球75%的女性,她们一生中至少会患病一次,其中高达9%的女性会经历复发性发作(RVVC)。基因差异可能在女性复发性VVC感染的发生中起作用。因此,我们调查了可能增加非洲人群中女性患RVVC风险的遗传宿主因素。我们在肯尼亚内罗毕的女性中进行了一项病例对照研究,以确定RVVC的遗传风险因素。我们的全基因组关联研究将患有RVVC的女性(n = 174)与患有急性VVC的女性(n = 157)以及对照组(n = 347)进行了比较。对照组包括有症状但未感染的女性(n = 246)和无症状/健康女性(n = 101)。我们鉴定出了几个与RVVC易感性增加相关的基因组变异(P < 10),其中关键的变异是在MS4A12基因附近发现的单核苷酸多态性(SNP)rs8181503(P = 9.28×10,优势比(OR)= 0.46),以及位于TMEM39A基因附近的SNP rs58936172(P = 8.96×10,OR = 2.42)。通路富集分析显示,与代谢、疾病信号传导和细胞粘附通路相关的基因中,与RVVC风险增加相关的遗传变异出现了富集。这些通路包括与糖异生、脂肪酸代谢、亚油酸代谢、磷酸戊糖、趋化作用和成纤维细胞生长因子信号通路相关的通路。我们研究中鉴定出的基因和通路可能有助于了解非洲人群对RVVC的易感性,以改善患者护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5111/11982394/b8202d627eac/41598_2025_95772_Fig1_HTML.jpg

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