New insights into the distribution of APOE polymorphism in the Iberian Peninsula. The case of Andalusia (Spain). (September 2014)

• Record Type: Journal Article
• Authors: Reales, Guillermo; Hernández, Candela L.; Dugoujon, Jean-Michel; Novelletto, Andrea; Cuesta, Pedro; Fortes-Lima, César; Rodríguez, Juan N.; Calderón, Rosario
• Is Part Of: Annals of human biology. Volume 41:Number 5(2014:Sep./Oct.)
• Page Start: 443
• Page End: 452
• Publication Date: 2014-09
• Subjects: Human biology -- Periodicals; 612
• DOI: 10.3109/03014460.2013.877966
• Languages: English
• ISSNs: 0301-4460

Abstract

<abstract> <title>Abstract</title> <p> <italic>Background</italic>: The <italic>APOE</italic> 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.</p> <p> <italic>Aim</italic>: This work was addressed to investigate the extent of <italic>APOE</italic> 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.</p> <p> <italic>Subjects and methods</italic>: This study used genomic DNA from healthy, unrelated Andalusians of both sexes (<italic>n</italic> = 322). All samples were genotyped for two SNPs, rs429358 and rs7412, which determine the three <italic>APOE</italic> alleles: <italic>ε</italic>2, <italic>ε</italic>3 and <italic>ε</italic>4. For analyses, a TaqMan-based technique was applied using a RT-PCR. Comparisons with other Mediterranean populations were performed based on multivariate analysis.</p> <p> <italic>Results</italic>: A relatively high frequency of <italic>ε</italic>4 in Granada (eastern Andalusia), as well as a low <italic>ε</italic>2 frequency in Huelva (western Andalusia) were observed. The finding that <italic>ε</italic>4 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 <italic>APOE-ε</italic>4 gradient in Europe.</p> <p> <italic>Conclusion</italic>: 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.</p> </abstract>