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Single Nucleotide Variants Associated With Polygenic Hypercholesterolemia in Families Diagnosed Clinically With Familial Hypercholesterolemia.

Itziar Lamiquiz-Moneo,María Rosario Pérez-Ruiz,Estíbaliz Jarauta,María Teresa Tejedor,Ana M Bea,Rocío Mateo-Gallego,Sofía Pérez-Calahorra,Lucía Baila-Rueda,Victoria Marco-Benedí,Isabel de Castro-Orós,Ana Cenarro,Fernando Civeira

Revista Española de Cardiología (English Edition)（2018）

Cited 7|Views42
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Abstract
Nonfamilial hypercholesterolemia genetic hypercholesterolemia families concentrate risk alleles for high LDL-C. Their contribution varies greatly among families, indicating the complexity and heterogeneity of these forms of hypercholesterolemias. The gene score explains a small percentage of LDL-C, which limits its use in diagnosis.
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Key words
Familial hypercholesterolemia,Single nucleotide variants,Polygenic hypercholesterolemia
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