Identification of copy number variants defining genomic differences among major human groups.

ABSTRACT:

Background

Understanding the genetic contribution to phenotype variation of human groups is necessary to elucidate differences in disease predisposition and response to pharmaceutical treatments in different human populations.

Methodology/principal findings

We have investigated the genome-wide profile of structural variation on pooled samples from the three populations studied in the HapMap project by comparative genome hybridization (CGH) in different array platforms. We have identified and experimentally validated 33 genomic loci that show significant copy number differences from one population to the other. Interestingly, we found an enrichment of genes related to environment adaptation (immune response, lipid metabolism and extracellular space) within these regions and t

SUBMITTER: Armengol L 

PROVIDER: S-EPMC2747275 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature