title: New insights into the distribution of APOE polymorphism in the Iberian Peninsula. The case of Andalusia (Spain).
abstract: BACKGROUND
  The APOE gene has received much attention due to the remarkable spatial variation patterns of some of its genotypes and alleles in human populations and to its relevance in biomedicine.
  
  
  OBJECTIVE
  This work was addressed to investigate the extent of APOE polymorphism between autochthonous Andalusians originating from Huelva and Granada provinces. No data on this marker in these southern Spanish coastal populations are available up to date.
  
  
  METHODS
  This study used genomic DNA from healthy, unrelated Andalusians of both sexes (n = 322). All samples were genotyped for two SNPs, rs429358 and rs7412, which determine the three APOE alleles: ε2, ε3 and ε4. For analyses, a TaqMan-based technique was applied using a RT-PCR. Comparisons with other Mediterranean populations were performed based on multivariate analysis.
  
  
  RESULTS
  A relatively high frequency of ε4 in Granada (eastern Andalusia), as well as a low ε2 frequency in Huelva (western Andalusia) were observed. The finding that ε4 allele in Southern Spain and Portugal is higher than expected given its geographical location poses an interesting question for this study, given the well-established APOE-ε4 gradient in Europe.
  
  
  CONCLUSIONS
  This population study may represent useful information for further prospective anthropological and molecular genetic studies focused on unravelling the relationship between population genetic composition and specific human diseases.
authors: Departamento de Zoología y Antropología Física, Facultad de Biología, Universidad Complutense , Madrid , Spain .
authors: Guillermo
authors: G
authors: Reales
authors: Candela L
authors: CL
authors: Hernández
authors: Jean-Michel
authors: JM
authors: Dugoujon
authors: Andrea
authors: A
authors: Novelletto
authors: Pedro
authors: P
authors: Cuesta
authors: César
authors: C
authors: Fortes-Lima
authors: Juan N
authors: JN
authors: Rodríguez
authors: Rosario
authors: R
authors: Calderón
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D013030:Spain
chemical_list: D001057:Apolipoproteins E
keywords: APOE alleles; European and Mediterranean populations; autosomal markers; complex diseases; human genetic diversity; rs429358; rs7412