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Exploring genomic structure differences and similarities between the Greek and European HapMap populations: implications for association studies

NCJ Number
Annals of Human Genetics Volume: 76 Dated: 2012 Pages: 472-483
Date Published
12 pages

This study examined the genomic structure of the Greek population (56 individuals) and compared it to the HapMap TSI and CEU populations. 


Studies of the genomic structure of the Greek population and Southeastern Europe are limited, despite the central position of the area as a gateway for human migrations into Europe. HapMap has provided a unique tool for the analysis of human genetic variation. Europe is represented by the CEU (Northwestern Europe) and the TSI populations (Tuscan Italians from Southern Europe), which serve as reference for the design of genetic association studies. Furthermore, genetic association findings are often transferred to unstudied populations. Although initial studies support the fact that the CEU can, in general, be used as reference for the selection of tagging SNPs in European populations, this has not been extensively studied across Europe. The current project studied 1,112 SNPs (27 regions, 13 chromosomes). Although the HapMap European populations are, in general, a good reference for the Greek population, regions of population differentiation do exist, and results should not be light-heartedly generalized. This study concluded that perhaps due to the individual evolutionary history of each genomic region, geographic proximity is not always a perfect guide for selecting a reference population for an unstudied population. (publisher abstract modified)

Date Published: January 1, 2012