Author(s): Tavares, Isabel ; Oliveira, Márcia E. ; Maia, Nuno ; Moreira, Luciana ; Castro Lacerda, Pedro ; Santos, Josefina ; Santos, Rosário ; Pinho Costa, Paulo ; Lobato, Luísa
Date: 2019
Persistent ID: http://hdl.handle.net/10400.18/6609
Origin: Repositório Científico do Instituto Nacional de Saúde
Subject(s): Amino Acid Substitution; Amyloidosis; Brazil; Female; Fibrinogen; Humans; Male; Portugal; Family; Haplotypes; Mutation, Missense; Polymorphism, Genetic; Doenças Genéticas
Background: Fibrinogen A alpha-chain (AFib) amyloidosis is an autosomal dominant disease with an endemic foci in the district of Braga, northern Portugal [1]. Among the 16 amyloidogenic mutations identified in the fibrinogen A alpha-chain gene (FGA) [2,3], the c.1634A > T (p.Glu545Val) mutation (rs121909612) is the most common and, so far, the only one identified in Portugal. A first study using three common polymorphisms showed a single haplotype, associated with the FGA p.Glu545Val mutation in Irish–American and Polish–Canadian kindreds [4]. However, the origin of this amyloidogenic variant in diverse regions and its migration in the different populations are still unclear. Therefore, we proceeded to a preliminary study using two FGA haplotype markers in newly identified Portuguese and Brazilian carriers to investigate the possibility of a common ancestor.
