IDDF2018-ABS-0087 Serum metabolite profiling of familial adenomatous polyposis using UPLC-MS/MS

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Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited intestinal polyposis syndrome accounts for about 1% of all colorectal cancers (CRC). Despite increasing awareness of its molecular pathogenesis? over the past two decades, there is still a lack of reliable biomarkers for the screening, monitoring and treatment of FAP? In this study, based on metabonomics analysis, we aimed to identify candidate biomarkers that can be used for FAP detection with high sensitivity and specificity by using human serum samples.


Serum metabolites from FAP patients (N?=25) and healthy subjects (n=14) were profiled using Ultra Performance Liquid? Chromatography and Tandem Mass Spectrometry (UPLC-?MS/MS).


125 metabolites (down-regulated 78 and up-regulated 47) were identified with statistical tests of? orthogonal partial least-squares-discriminant analysis (OPLS-DA), with the conditions of variable importance in projection (VIP) >1, p<0.05 using the Mann-?Whitney U test, and fold change (FC) ≥2 or.


We observed a distinct metabolic signature in FAP patients including tricarboxylic acid (TCA) cycle, amino acids metabolism, fatty acids metabolism, and bile acids (BAs) metabolism. Our results demonstrated that a panel of serum metabolite markers is of great value as a non-invasive diagnostic method for detecting FAP, and can be further used to study new therapeutic strategies.

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