The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

• Published in: Metabolism, clinical and experimental Vol. 65; no. 3; pp. 48 - 53
• Main Authors: Sharifi, Mahtab, Walus-Miarka, Małgorzata, Idzior-Waluś, Barbara, Malecki, Maciej T., Sanak, Marek, Whittall, Ros, Li, Ka Wah, Futema, Marta, Humphries, Steve E.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.03.2016; W.B. Saunders
• Subjects: Adult; Apolipoproteins B - genetics; Brief Report; Cholesterol - blood; Cholesterol, LDL - genetics; Endocrinology & Metabolism; Exons - genetics; Familial hypercholesterolemia; Female; Humans; Hypercholesterolemia - epidemiology; Hypercholesterolemia - genetics; Hyperlipoproteinemia Type II - epidemiology; Hyperlipoproteinemia Type II - genetics; LDL-C gene score; LDLR mutation; Male; Middle Aged; Mutation - genetics; Pedigree; Poland - epidemiology; Polymorphism, Single Nucleotide - genetics; Proprotein Convertase 9; Proprotein Convertases - genetics; Receptors, LDL - genetics; Serine Endopeptidases - genetics; LDL-C gene score; FH; SNP; PCSK9; Familial hypercholesterolemia; APOB; LDLR mutation; protein convertase subtilisin/kexin 9 gene; apolipoprotein B gene; single nucleotide polymorphism; familial hypercholesterolemia
• ISSN: 0026-0495; 1532-8600; 1532-8600
• DOI: 10.1016/j.metabol.2015.10.018

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder with a frequency of 1 in 200 to 500 in most European populations. Mutations in LDLR, APOB and PCSK9 genes are known to cause FH. In this study, we analyzed the genetic spectrum of the disease in the understudied Polish popula...