Quantification of LPA KIV-2 repeats with next generation sequencing technology

Background and Aims: Elevated level of lipoprotein(a) is a likely cause of clinical familial hypercholesterolemia (FH), however plasma lipoprotein(a) is not routinely measured in all patients with clinical FH. The most significant genetic determinant of lipoprotein(a) is the kringle IV type 2 (KIV-2) size polymorphism in the LPA gene encoding apolipoprotein(a). This structural variant determines apolipoprotein(a) size which is inversely correlated with plasma lipoprotein(a). We aimed to estimate the number of LPA KIV-2 repeats with readily available next generation sequencing (NGS) data.