Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection

Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection

Familial hypercholesterolemia (FH) is associated with mutations in the low-density lipoprotein (LDL) receptor (<i>LDLR</i>), apolipoprotein B (<i>APOB</i>), and proprotein convertase subtilisin/kexin 9 (<i>PCSK9</i>) genes. A pathological variant has not been iden...

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Bibliographic Details
Main Authors: Jesús M. Martín-Campos, Sheila Ruiz-Nogales, Daiana Ibarretxe, Emilio Ortega, Elisabet Sánchez-Pujol, Meritxell Royuela-Juncadella, Àlex Vila, Carolina Guerrero, Alberto Zamora, Cristina Soler i Ferrer, Juan Antonio Arroyo, Gemma Carreras, Susana Martínez-Figueroa, Rosa Roig, Núria Plana, Francisco Blanco-Vaca, Xarxa d’Unitats de Lípids i Arteriosclerosi (XULA)
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Biomedicines
Subjects:
familial hypercholesterolemia
atherosclerosis
genetic risk scores
cardiovascular risk
molecular diagnosis
Online Access:https://www.mdpi.com/2227-9059/8/9/353

Internet

https://www.mdpi.com/2227-9059/8/9/353

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