May 26, 2010

Genetic Structure of the Spanish Population (Gayan et al. 2010)

BMC Genomics 2010, 11:326doi:10.1186/1471-2164-11-326

Genetic Structure of the Spanish Population

Javier Gayan et al.


Genetic admixture is a common caveat for genetic association analysis. Therefore, it is important to characterize the genetic structure of the population under study to control for this kind of potential bias.

In this study we have sampled over 800 unrelated individuals from the population of Spain, and have genotyped them with a genome-wide coverage. We have carried out linkage disequilibrium, haplotype, population structure and copy-number variation (CNV) analyses, and have compared these estimates of the Spanish population with existing data from similar efforts.

In general, the Spanish population is similar to the Western and Northern Europeans, but has a more diverse haplotypic structure. Moreover, the Spanish population is also largely homogeneous within itself, although patterns of micro-structure may be able to predict locations of origin from distant regions. Finally, we also present the first characterization of a CNV map of the Spanish population. These results and original data are made available to the scientific community.



princenuadha said...

looks like the Spanish were clustered closer to the Tuscans than to the northern/western Europeans. From that one map it seems like there is quite a bit more diversity per geographic area in both Spain and Tuscany than in northern/western Europe. I've seen this idea before...

andrew said...

Figure 9 in the open access paper is the money image. It is a very effective presentation of the regional variation that is present in the principal component analysis vis-a-vis geography.