Implications of biogeography of human populations for 'race' and medicine

• Published in: Nature genetics Vol. 36; no. 11; pp. S21 - S27
• Main Authors: TISHKOFF, Sarah A, KIDD, Kenneth K
• Format: Conference Proceeding Journal Article
• Language: English
• Published: London Nature Publishing Group 01.11.2004
• Subjects: Biogeography; Biological and medical sciences; Biological Evolution; Fundamental and applied biological sciences. Psychology; Genetic Variation; Genetics of eukaryotes. Biological and molecular evolution; Genetics, Population; Geography; Human genetics; Humans; Physiological aspects; Selection, Genetic; Africa; United States; Human; Human origin; Genetic drift; Genetic variability; Genetic variant; Review; African; Medicine; Gene; Classification; Distribution; Race; Expansion
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng1438

In this review, we focus on the biogeographical distribution of genetic variation and address whether or not populations cluster according to the popular concept of 'race'. We show that racial classifications are inadequate descriptors of the distribution of genetic variation in our species. Although populations do cluster by broad geographic regions, which generally correspond to socially recognized races, the distribution of genetic variation is quasicontinuous in clinal patterns related to geography. The broad global pattern reflects the accumulation of genetic drift associated with a recent African origin of modern humans, followed by expansion out of Africa and across the rest of the globe. Because disease genes may be geographically restricted due to mutation, genetic drift, migration and natural selection, knowledge of individual ancestry will be important for biomedical studies. Identifiers based on race will often be insufficient.