Hypertriglyceridemia: Phenomics and Genomics

Overview

Journal Mol Cell Biochem

Publisher Springer

Specialty Biochemistry

Date 2009 Jan 9

PMID 19130180

Citations 23

Authors

Robert A Hegele

Rebecca L Pollex

Affiliations

Soon will be listed here.

Abstract

Hypertriglyceridemia is a common complex metabolic trait that is associated with increased atherosclerosis risk, presence of the metabolic syndrome and, with extreme elevation, increased risk of pancreatitis. Hierarchical cluster analysis using clinical and biochemical features of the Frederickson hyperlipoproteinemia types can generate hypotheses for molecular genetic studies. High throughput resequencing of individuals at the extremes of plasma triglyceride concentration has shown that both rare genetic variants with large effects and common genetic variants with moderate effects explain a relatively large proportion of variation. Very recent progress using high-density sets of genome-wide markers have identified additional genetic determinants of plasma triglyceride concentrations, albeit within largely normolipidemic subjects and with small effect sizes. Phenomic evaluation of patients with hypertriglyceridemia might help to clarify genotype-phenotype correlations and responses to interventions.

Citing Articles

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.

Mendes C, Loureiro T, Villela D, Bittencourt M, Sobreira J, Bermeo D Mol Genet Metab Rep. 2024; 40:101100.

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Dyslipidemia in diffuse large B-cell lymphoma based on the genetic subtypes: a single-center study of 259 Chinese patients.

Xu Y, Shen H, Shi Y, Zhao Y, Zhen X, Sun J Front Oncol. 2023; 13:1172623.

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Causes, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia.

Paragh G, Nemeth A, Harangi M, Banach M, Fulop P Lipids Health Dis. 2022; 21(1):21.

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A Modern Approach to Dyslipidemia.

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Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.

Wu Y, Hu Y, Li G BMC Pediatr. 2021; 21(1):414.

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