Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece

Human Mutation
G MiltiadousM A Cariolou

Abstract

Familial Hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol levels due to an increase in low density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. So far, over 600 mutations have been reported for the LDLR gene and account for FH. The nature of LDLR gene mutations is different in various ethnicities and has also regional distribution within each ethnicity. Eleven mutations have already been described in the Greek population. This report describes seven LDLR gene mutations accounting for FH in Northwestern Greece (81T>G, 517T>C, 858C>A, 1285G>A, 1352T>C, 1646G>A and 1775G>A) and their geographic distribution. We have recently described one of these mutations (1352T>C) as a novel point mutation in a Greek family originating from Northwestern Greece. Furthermore, two previously identified mutations (81T>C, 1775G>A) were also detected in the Greek FH patients for the first time. The 1775G>A mutation was responsible for all the homozygous patients in our area, indicating a founder effect. These data will favor the develop...Continue Reading

Citations

Jun 18, 2004·European Journal of Clinical Investigation·G V Z DedoussisC Stefanadis
Jul 11, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Eleftheria Laios, Euridiki Drogari
Mar 29, 2013·Clinica Chimica Acta; International Journal of Clinical Chemistry·Waqas AhmedSteve E Humphries
Oct 24, 2006·Journal of Cardiovascular Pharmacology and Therapeutics·Dimitrios S ChristidisMoses S Elisaf
Nov 4, 2004·Human Mutation·George V Z DedoussisJanine Genschel

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