Repositório Científico do Instituto Nacional de Saúde >
Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis >
DPSPDNT - Posters/abstracts em congressos internacionais >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/378

Title: Influence of APOE genotype in the phenotype of clinical diagnosed Portuguese FH patients
Authors: Medeiros, A.M.
Santos, T.
Alves, A.C.
Bourbon, M.
Keywords: Doenças Cardio e Cérebro-vasculares
Issue Date: Jun-2011
Publisher: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Abstract: APOE gene is polymorphic, comprises three frequent alleles (e2, e3, e4) which create six different genotypes and six protein isoforms with different affinity to LDLR. Isoform E2 has less affinity to receptor while isoform E4 have much efficient bond and compete with apoB. The present study pretends to evaluate the distribution of APOE alleles/genotype of index patients with clinical diagnosis of Familial Hypercholesterolemia (FH) and investigate if a specific allele/genotype is cause of hypercholesterolemia. APOE genotyping was performed using SnaPShot Multiplex System after PCR amplification. Biochemical parameters were determined by routine methods and results were analyzed with SPSS software using t- test. For this analysis, children and adults were divided according to their genetic diagnosis. Total of 353 patients were analyzed: 140 patients with mutation in LDLR, APOB or PCSK9 (44 children (G1), 96 adults (G2)) and 213 without a detectable mutation (70 children (G3), 143 adults (G4). Distribution of 6 genotypes (E2/E2, E2/E3, E2/E4, E3/E3, E3/E4, E4/E4) was as following: G1, 0%, 2.3%, 4.5%, 68.2%, 20.5%, 4.5%; G2, 1.0%, 1.0%, 4.2%, 62.5%, 28.1%, 3.1%; G3, 0%, 1.4%, 5.7%, 55.7%, 35.7%, 1.4%; G4, 0%, 1.4%, 5.6%, 63.5%, 25.9%, 3.5%. Statistical analysis revealed that presence of at least one e4 is associated with high levels of LDLc in G3/G4 patients (LDLcG3=182.96±49.46mg/dl, (e4/eX, X=2,3,4) vs LDLcG3=152.65±60.60mg/dl (eY/eZ, Y,Z=2,3), p=0.025; LDLcG4=227.69±43.17mg/dl, (e4/eX, X=2,3,4) vs LDLcG4=179.70±64.78mg/dl (eY/eZ, Y,Z=2,3), p<0.001)) but not in G1/G2 patients (p=0.100, p=0.832). Presence of e4 can be the cause of hypercholesterolemia presented by patients without genetic diagnosis of FH.
URI: http://hdl.handle.net/10400.18/378
Appears in Collections:DPSPDNT - Posters/abstracts em congressos internacionais

Files in This Item:

File Description SizeFormat
Influence of APOE genotype.pdf1.23 MBAdobe PDFView/Open
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde

Estamos no RCAAP Governo Português separator Ministério da Educação e Ciência   Fundação para a Ciência e a Tecnologia

Financiado por:

POS_C UE