Allelic and phenotypic spectrum of plasma triglycerides

Article ID	Journal	Published Year	Pages	File Type
1949365	Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids	2012	10 Pages	PDF

Abstract

âº GWAS have identified 32 loci associated with plasma TG concentration. âº The same genetic determinants of 'normal' TG also underlie extreme TG phenotypes. âº A balance of common and rare small effect variants gives rise to “normal” TG. âº Common small effect and rare heterozygous large effect variants accumulate in polygenic HTG and hypoTG. âº Homozygous large effect variants give rise to monogenic HTG and hypoTG.

Keywords

HTG MTP apoB ANGPTL4 LPL FCH FGF21 APOC3 HNF4α abetalipoproteinemia APOA5 IRS1 Apolipoprotein A-V VLDL GPIHBP1 APOC2 APOA4 Trib1 PLA2G6 GKRP MLXIPL PinX1 eQTLs LMF1 Lipase maturation factor 1 angiopoietin-like 3 PPARα LOF ABL HDL CLD PEPCK ANGPTL3 high-density lipoprotein angiopoietin-like 4 Apoe Apolipoprotein A-IV Apolipoprotein B apolipoprotein C-II Apolipoprotein C-III apolipoprotein E Loss-of-function Expression quantitative trait loci coronary artery disease cardiovascular disease triglyceride Resequencing Genetic variation CVD insulin receptor substrate 1 endoplasmic reticulum CAD hepatocyte nuclear factor 4 alpha fibroblast growth factor 21 phosphoenolpyruvate carboxykinase Lipoprotein lipase Lipoprotein very low-density lipoprotein Low-density lipoprotein LDL Triglyceride metabolism Genome-wide association studies GWAS Rare variant Hypertriglyceridemia microsomal triglyceride transfer protein Glucokinase regulatory protein Glucokinase