Hypertriglyceridemia: phenomics and genomics

被引:46
作者
Hegele, Robert A. [1 ,2 ,3 ]
Pollex, Rebecca L. [1 ,2 ]
机构
[1] Univ Western Ontario, Schulich Sch Med & Dent, London, ON N6A 5K8, Canada
[2] Robarts Res Inst, Vasc Biol Res Grp, London, ON N6A 5K8, Canada
[3] Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, Canada
关键词
Lipid; Lipoprotein; Monogenic; Complex trait; Quantitative trait; Chylomicron; DNA mutation; Single nucleotide polymorphism; FAMILIAL COMBINED HYPERLIPIDEMIA; CORONARY-HEART-DISEASE; LIPOPROTEIN-LIPASE; NONFASTING TRIGLYCERIDES; WIDE ASSOCIATION; APOLIPOPROTEIN-E; OJI-CREE; METABOLISM; VARIANTS; BINDING;
D O I
10.1007/s11010-008-0005-1
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
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.
引用
收藏
页码:35 / 43
页数:9
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