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Since the first draft of the human genome we observed a boost in biomedical research. As consequence, nowadays, it is possible to know a person’s predisposition to a genetic disease or even how its organism will metabolize a given drug. Although, there is some delay in translating this knowledge to the development and implementation of personalized medicine, there are currently available some successful pharmacogenetic based treatment decisions. One of such example is abacavir, a nucleoside analog reverse transcriptase inhibitor used in treatment of HIV-1 infection. Abacavir hypersensitivity is strongly associated with HLA-B*57:01 allele. Genetic testing before abacavir’s prescription is now recommended in clinical guidelines and is practiced in most western countries (Chaponda & Pirmohamed 2011). In a near future, personalized medicine will, most certainly, bring considerable health gains to society. The new approaches to analyze the human genome, – genome-wide association studies (GWAS; Orange et al., 2011), deep resequencing (1000 Genomes Project Consortium, 2010) and gene expression variability (Li et al., 2010) –, are producing massive data, which are already historic marks in the understanding of the genetic makeup of traits. A good example is the 9p21 genomic region association with coronary artery disease (McPherson et al., 2007; Helgadottir et al., 2007). However, only a small fraction of the heritable variation of complex diseases has been identified. One possible explanation may be that many rare variants, which are not included in the common genotyping platforms, may contribute substantially to the genetic variation of complex diseases. Therefore, researchers are becoming aware that common disease – common variant and common disease – rare variant models (Gorlov et al., 2011; Carvajal-Carmona, 2010; Zhu et al., 2011) will largely contribute to understand the genetic architecture of the populations with a diverse ancestry, such as the Azoreans. Hence, regional and local studies are good approaches to comprehend the genetic specificities of each population.

The Genetic Makeup of Azoreans Versus Mainland Portugal Population