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Human population genetic diversity as a function of SNP type from HapMap data
Author(s) -
Garte Seymour
Publication year - 2010
Publication title -
american journal of human biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.559
H-Index - 81
eISSN - 1520-6300
pISSN - 1042-0533
DOI - 10.1002/ajhb.20984
Subject(s) - international hapmap project , snp , genetic diversity , diversity (politics) , evolutionary biology , population , biology , genetics , human genetic variation , computational biology , genotype , demography , single nucleotide polymorphism , human genome , anthropology , sociology , gene , genome
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 F st 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.” Am. J. Hum. Biol. 2010. © 2009 Wiley‐Liss, Inc.