Dissection of Clinical and Gene Expression Signatures of Familial versus Multifactorial Chylomicronemia

Journal of the Endocrine Society
Karine TremblayDiane Brisson

Abstract

Familial chylomicronemia syndrome (FCS) is a rare disorder associated with chylomicronemia (CM) and an increased risk of pancreatitis. Most individuals with CM do not have FCS but exhibit multifactorial CM (MCM), which differs from FCS in terms of risk and disease management. This study aimed to investigate clinical and gene expression profiles of FCS and MCM patients. Anthropometrics, clinical, and biochemical variables were analyzed in 57 FCS and 353 MCM patients. Gene expression analyses were performed in a subsample of 19 FCS, 28 MCM, and 15 normolipidemic controls. Receiver operating characteristic (ROC) curve analyses were performed to analyze the capacity of variables to discriminate FCS from MCM. Sustained fasting triglycerides ≥20 mmol/L (>15 mmol/L with eruptive xanthomas), history of pancreatitis, poor response to fibrates, diagnosis of CM at childhood, body mass index <22 kg/m2, and delipidated apolipoprotein B or glycerol levels <0.9 g/L and <0.05 mmol/L, respectively, had an area under the ROC curve ≥0.7. Gene expression analyses identified 142 probes differentially expressed in FCS and 32 in MCM compared with controls. Among them, 13 probes are shared between FCS and MCM; 63 are specific to FCS and 2 to MCM. Most...Continue Reading

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Citations

Feb 13, 2021·Journal of Clinical Medicine·Mélanie MaltaisDaniel Gaudet
May 14, 2021·Journal of Atherosclerosis and Thrombosis·Hiroaki OkazakiMariko Harada-Shiba
May 22, 2021·The Journal of Clinical Endocrinology and Metabolism·Martine PaquetteSophie Bernard

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Methods Mentioned

BETA
FCS
exome sequencing

Software Mentioned

QIAGEN Pathway Analysis ( IPA®
Stata
Limma
MP
Bioconductor

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