Human population genetic diversity as a function of SNP type from HapMap data.
Data from the international HapMap project were mined to determine if the degree of genetic differentiation (Fst) is dependent on single nucleotide polymorphism (SNP) category. The Fst statistic was evaluated across all SNPs for each of 30 genes and for each of five chromosomes. A consistent decrease in diversity between Europeans and Africans was seen for nonsynonymous coding region SNPs compared to the three other SNP categories: synonymous SNPs, UTR, and intronic SNPs. This suggests an effect of balancing selection in reducing interpopulation genetic diversity at sites that would be expected to influence phenotype and therefore be subject to selection. This result is inconsistent with the concept of large population specific genetic differences that could have applications in "racialized medicine."
Garte
Seymour
S
Department of Environmental and Occupational Health, Graduate School of Public Health, Hillman Cancer Center, University of Pittsburgh, Pittsburgh, Pennsylvania 15232, USA. sjgarte@yahoo.com
D044383:Black People / Q000235:genetics*; D002877:Chromosomes, Human / Q000235:genetics; D030541:Databases, Genetic; D005787:Gene Frequency; D005828:Genetics, Population / Q000379:methods*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*