We sequenced LDLR, APOB, PCSK9, LDLRAP1, APOE, LIPA and STAP1 with the LipidInCode platform in 400 unrelated subjects from Spain with a clinical diagnosis of FH.
The genes <i>STAP1</i> (signal transducing adaptor family member 1), <i>CYP7A1</i> (cytochrome P450 family 7 subfamily A member 1), <i>LIPA</i> (lipase A, lysosomal acid type), <i>ABCG5</i> (ATP binding cassette subfamily G member 5), <i>ABCG8</i> (ATP binding cassette subfamily G member 8), and <i>PNPLA5</i> (patatin like phospholipase domain containing 5), which can cause aberrations of lipid metabolism, are being evaluated as new targets for the diagnosis and personalized management of familial hypercholesterolemia.
Our findings confirm and extend the linkage between STAP1 variants and FH, and point to an important role of this adaptor protein within a signaling pathway that affects cholesterol homeostasis.