Whole-Genome Patterns of Common DNA Variation in Three Human Populations

• Published in: Science (American Association for the Advancement of Science) Vol. 307; no. 5712; pp. 1072 - 1079
• Main Authors: Hinds, David A., Stuve, Laura L., Nilsen, Geoffrey B., Halperin, Eran, Eskin, Eleazar, Ballinger, Dennis G., Frazer, Kelly A., Cox, David R.
• Format: Journal Article
• Language: English
• Published: Washington, DC American Association for the Advancement of Science 18.02.2005; The American Association for the Advancement of Science
• Subjects: African Americans; African Americans - genetics; Algorithms; Alleles; Americans; Analysis; ancestry; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Case-Control Studies; Chromosome Mapping; Coding; Databases, Genetic; Deoxyribonucleic acid; DNA; European Continental Ancestry Group - genetics; Female; Fundamental and applied biological sciences. Psychology; Gene Frequency; Genetic diversity; Genetic Markers; Genetic Predisposition to Disease; Genetic Variation; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Genomes; Genomics; Genotype; Genotypes; genotyping; Haplotypes; Human; Human genetics; Human genome; human population; Human populations; Humans; Individual Differences; Linkage Disequilibrium; Male; Multifactorial Inheritance; nucleotide sequences; Polymorphism; Polymorphism, Single Nucleotide; Population genetics; Population genetics, reproduction patterns; Quality Control; Recombination, Genetic; Risk Factors; Selection, Genetic; single nucleotide polymorphism; Single nucleotide polymorphisms; Asia; Europe; Africa; America; United States; Human; Genetic variability; Genotype; Single nucleotide polymorphism; Linkage equilibrium; Genome; Population genetics
• ISSN: 0036-8075; 1095-9203; 1095-9203
• DOI: 10.1126/science.1105436

Individual differences in DNA sequence are the genetic basis of human variability. We have characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide polymorphisms (SNPs) in 71 Americans of European, African, and Asian ancestry. Our results indicate that these SNPs capture most common genetic variation as a result of linkage disequilibrium, the correlation among common SNP alleles. We observe a strong correlation between extended regions of linkage disequilibrium and functional genomic elements. Our data provide a tool for exploring many questions that remain regarding the causal role of common human DNA variation in complex human traits and for investigating the nature of genetic variation within and between human populations.