Andrea Baragetti, Asiiat S Alieva, Liliana Grigore, Fabio Pellegatta, Andrea Lupi, Chiara Scrimali, Angelo B Cefalù, Barbara A Hutten, Albert Wiegman, Paul Knaapen, Michiel J Bom, Nick S Nurmohamed, Olga Reutova, Alexandra Konradi, Evgeny Shlyakhto, Erik S G Stroes, Maurizio Averna, Alberico L Catapano
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引用次数: 0
摘要
背景和目的：当无法获得基因检测时，确定家族性高胆固醇血症（FH）个体是次优的。仅依靠低密度脂蛋白胆固醇（LDL-C）是具有挑战性的，因为它可能无法从一般人群中区分FH患者和高胆固醇血症（HC）患者。本研究的目的是确定与心血管疾病和/或炎症相关的生物标志物是否能识别FH个体并将其与HC个体区分开来。方法：测量血浆中264种蛋白质，并使用机器学习来搜索那些可以区分FH个体的蛋白质，无论是基因证明的（genFH）还是临床诊断的（clinFH），与HC和对照个体。结果：genFH和clinFH的血浆成纤维细胞生长因子5 （FGF-5）水平均高于对照组（两者的平均曲线下面积[AUC] 0.9990, P < 0.001）或HC个体（平均AUC 0.991）。990, P < .001)，即使在匹配LDL-C水平后也是如此。免疫酶分析证实，在所有分析的队列中，FGF-5在genFH和clinFH中升高。结论：该分析表明FGF-5可能是区分FH患者和HC患者的生物标志物。
Fibroblast growth factor 5: a novel biomarker for familial hypercholesterolaemia.
Background and aims: Identification of individuals affected by familial hypercholesterolaemia (FH) is suboptimal when genetic tests are unavailable. Relying only on low-density lipoprotein cholesterol (LDL-C) is challenging as it may not allow distinguishing individuals with FH from hypercholesterolaemic (HC) individuals from the general population. The aim of this study was to determine whether biomarkers associated with cardiovascular disease and/or inflammation identify FH individuals and distinguish them from HC individuals.
Methods: A panel of 264 proteins in plasma was measured and machine learning was used to search for those that can distinguish FH individuals, either genetically proven (genFH) or clinically diagnosed (clinFH) from HC and control individuals.
Results: Both genFH and clinFH had elevated plasma levels of fibroblast growth factor 5 (FGF-5) compared with controls (mean area under the curve [AUC] > .990 for both, P < .001) or HC individuals (mean AUC >.990, P < .001), even after matching for LDL-C levels. An immunoenzymatic assay confirmed that FGF-5 was elevated in genFH and clinFH in all cohorts analysed.
Conclusions: This analysis suggests that FGF-5 could be a biomarker to discriminate individuals living with FH from HC individuals.
期刊介绍：
The European Heart Journal is a renowned international journal that focuses on cardiovascular medicine. It is published weekly and is the official journal of the European Society of Cardiology. This peer-reviewed journal is committed to publishing high-quality clinical and scientific material pertaining to all aspects of cardiovascular medicine. It covers a diverse range of topics including research findings, technical evaluations, and reviews. Moreover, the journal serves as a platform for the exchange of information and discussions on various aspects of cardiovascular medicine, including educational matters.
In addition to original papers on cardiovascular medicine and surgery, the European Heart Journal also presents reviews, clinical perspectives, ESC Guidelines, and editorial articles that highlight recent advancements in cardiology. Additionally, the journal actively encourages readers to share their thoughts and opinions through correspondence.
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