Lipoprotein(a) beyond the kringle IV repeat polymorphism: The complexity of genetic variation in the LPA gene

Non-genetic influences on lipoprotein(a) concentrations

“…In addition, recent studies indicated a role also in heart failure [ 3 ]. Lp(a) levels are strongly determined through genetic variants in the LPA gene, particularly by a size polymorphism in apolipoprotein(a) [apo(a)] as reviewed by Coassin and Kronenberg [ 4 ]. The present review will focus on the roles of non-genetic factors such as diet and physical activity (PA) and the influence by sex and hormones ( Fig.…”

Lipoprotein(a) and cardiovascular and valvular diseases: A genetic epidemiological perspective

“…Genetic epidemiological studies have benefited from the exceptionally high degree of variability in Lp(a) levels explained by genetics [2,7] as compared to other lipoproteins, to provide strong evidence of causality. For instance, in a recent cross-sectional analysis of the UK Biobank dataset, using a genetic risk score of three single nucleotide polymorphisms (SNPs) associated with lower Lp(a) levels, Emdin and colleagues [8] showed that a one standard deviation (SD) decrease in Lp (a) was associated with lower odds of CAVS (− 37%), peripheral vascular disease (− 31%), coronary heart disease (− 29%), HF (− 17%), stroke (− 13%) and chronic kidney disease (− 9%).…”

Characterizing the genetic polymorphisms in 370 challenging medically relevant genes using long-read sequencing data from 41 human individuals among 19 global populations

“…The KIV-2 repeat is ~5.5 kbp long and varies from 5-50+ copies among individuals. Six and 23 copies of the KIV-2 repeat are present in the GRCh38 (43, 44) and T2T-CHM13 (24) assemblies. Consequently, the assessment of this crucial, complex gene is considerably more difficult for the GRCh38 assembly.…”

“…The KIV-2 repeat is ~5.5 kbp long and varies from 5-50+ copies among individuals. Six and 23 copies of the KIV-2 repeat are present in the GRCh38 (43,44) and T2T-CHM13 (24) assemblies.…”