Resumen

SEVILLA, Sergio D. Metodología de los estudios de asociación genética. Insuf. card. [online]. 2007, vol.2, n.3, pp.111-114. ISSN 1852-3862.

Genomic association studies pursue to establish the statistical association between population genetic variants and a determined phenotype (i.e. a trait, the risk of disease, etc). These studies have been used to discover the genetic component of high prevalence diseases such diabetes, coronary hearth disease or cardiac failure. They are most commonly prospective cohort studies or case-control studies where the relative weight of genomic component, respect to other factors such the environment in the risk of developing a disease, is established. Commonly, single nucleotide polymorphisms (SNPs) are used as genetic markers. These variations can be functional and related to the physiopathology of the disease. However, in most of the cases, they are utilized as proxy markers for the mapping of the actual relevant genetic variant. The two possible approaches are "candidate gene", when a previous evidence of functionality exist for the variant, and "indirect association" Currently, "wide genome association" technique is being used to screen the whole genome for possible sites of association. These type of studies articulate horizontally with animal genomic models studies (mice). Possibly related positions described in mice (or other species) genetic mapping studies could later be explored in human association trials. Or, on the other hand, discoveries done in linkage disequilibrium studies ( in families of patients) could later be tested for physiopathological hypothesis in mice strains transgenic for that particular gene.

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