Coronary artery disease risk and lipidomic profiles are similar in familial and population-ascertained hyperlipidemias

Abstract

Abstract-20 at 5% false discovery rate) and 51 species in the population 36 samples (p-value range 0.017-6.8*10 -21 ). Hypertriglyceridemia was associated with altered levels of 37 117 lipid species in families (p-value range 0.035-1.8*10-49 ) and 119 species in the population sample 38 (p-value range 0.038-2.3*10 -56 ). The lipidomics profiles of hyperlipidemias were highly similar in 39 families and population samples. 40 Conclusion:We identified distinct lipidomic profiles associated with high LDL-C and triacylglyceride 41 levels. CAD risk, lipidomic profiles and genetic profiles are highly similar between familial and 42 population-ascertained hyperlipidemias, providing evidence of similar and overlapping underlying 43 mechanisms. Our results do not support different screening and treatment for such hyperlipidemias. 44

Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids

“…The rs76866386-C at ABCG5/8, which codes for ABC sterol transporters G5 and G8, has previously been associated with TC, LDL-C and CEs in LDL, 11,16 however we identified a specific association of rs76866386-C with reduced level of cholesteryl ester species CE(20:2;0). CE(20:2;0) has been shown to be positively associated with high LDL-C, 47 suggesting that the previously observed associations of help us understand the effects of genetic variants or genes in specific metabolic pathways at molecular level. Genetic variants at FADS gene cluster have been consistently reported to be associated with omega-3 and omega-6 fatty acids levels with inverse effects on different PUFAs, however, its mechanism has not been fully deciphered.…”

“…This does not seem to have substantial effect on lipidomic profiles as we demonstrated similar lipidomic profiles for dyslipidemias from the EUFAM and FINRISK cohorts. 47 Moreover, the recent guidelines from the European Atherosclerosis Society and European Federation of Clinical Chemistry and Laboratory Medicine recommends non-fasting blood samples for assessment of plasma lipid profiles. 54 The UK Biobank cohort is reported to have "healthy volunteer" effect, 55 which may affect the PheWAS results.…”