Rafaela Cirillo de Melo, Paula Rothbarth Silva, Nathalia Marçallo Peixoto Souza, Mateus Santana Lopes, Wellington Martins de Carvalho Ragassi, Luana Mota Ferreira, Fabiane Gomes de Moraes Rego, Marcel Henrique Marcondes Sari
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引用次数: 0
Abstract
Background/objectives: Diabetic neuropathy (DN) is one of the most common and disabling complications of diabetes mellitus (DM), affecting motor, sensory, and autonomic nerves. Genetic factors, particularly polymorphisms in the Angiotensin-converting enzyme (ACE) gene, have been proposed as contributors to DN susceptibility. This study aimed to synthesize the scientific evidence on ACE gene polymorphisms and their association with DN through a scoping review combined with scientometric analysis.
Methods: A comprehensive search of PubMed, Scopus, and Web of Science was performed in February 2025, following JBI and PRISMA-ScR guidelines. Observational studies involving individuals with DN and the genotyping of ACE polymorphisms were included. Scientometric mapping was conducted using the Bibliometrix package in RStudio to identify publication trends and key thematic terms.
Results: From 100 screened articles, 11 met the inclusion criteria. Most studies (72.7%) addressed diabetic peripheral neuropathy, while 27.3% investigated cardiac autonomic neuropathy. All studies analyzed the I/D polymorphism in intron 16 of the ACE gene. The D allele and DD genotype were associated with increased susceptibility to DN in over half of the studies (6/11), while the II genotype was reported as protective in 3/11. Findings varied by ethnicity and study design. The scientometric analysis identified 'peripheral diabetic neuropathy', type 2 diabetes', and 'ACE gene polymorphism' as the most frequently co-occurring terms, indicating that research on this topic has been concentrated around these themes, while showing limited diversity in geographic origin and scope.
Conclusions: ACE I/D polymorphism appears to modulate susceptibility to DN, though interethnic variability and methodological heterogeneity challenge definitive conclusions. Broader, standardized studies are needed to validate its utility as a predictive biomarker.
背景/目的：糖尿病神经病变（DN）是糖尿病（DM）最常见的致残性并发症之一，影响运动神经、感觉神经和自主神经。遗传因素，特别是血管紧张素转换酶（ACE）基因的多态性，被认为是DN易感性的贡献者。本研究旨在通过范围综述与科学计量分析相结合的方法，综合ACE基因多态性及其与DN相关性的科学证据。方法：根据JBI和PRISMA-ScR指南，于2025年2月对PubMed、Scopus和Web of Science进行综合检索。纳入了涉及DN患者和ACE多态性基因分型的观察性研究。利用RStudio中的Bibliometrix软件包进行科学计量学映射，以确定出版趋势和关键主题术语。结果：筛选的100篇文章中，11篇符合纳入标准。大多数研究（72.7%）涉及糖尿病周围神经病变，而27.3%的研究涉及心脏自主神经病变。所有研究都分析了ACE基因16内含子的I/D多态性。在超过一半的研究（6/11）中，D等位基因和DD基因型与DN易感性增加相关，而在3/11中，II基因型被报道具有保护作用。研究结果因种族和研究设计而异。科学计量学分析发现，“周围糖尿病神经病变”、“2型糖尿病”和“ACE基因多态性”是最常同时出现的术语，这表明该主题的研究一直集中在这些主题周围，而在地理起源和范围上显示出有限的多样性。结论：ACE I/D多态性似乎调节对DN的易感性，尽管种族间变异性和方法异质性挑战了明确的结论。需要更广泛、标准化的研究来验证其作为预测性生物标志物的效用。
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