LDLR and familial hypercholesterolemia: Genome wide association study (GWAS) have identified nearly 80 genes with pathogenic variants to be associated with hypercholesterolemia, such as genes encoding LDLR, APOB, PCSK9, APOE, LDLRAP1, and the signal-transducing adaptor family member 1 (STAP1), among which mutations in LDLR account for most cases with FH (∼85–90%) (Paththinige et al., 2017; Di Taranto et al., 2020; Jackson et al., 2021).