Convergent adaptation of human lactase persistence in Africa and Europe.

Journal Article (Journal Article)

A SNP in the gene encoding lactase (LCT) (C/T-13910) is associated with the ability to digest milk as adults (lactase persistence) in Europeans, but the genetic basis of lactase persistence in Africans was previously unknown. We conducted a genotype-phenotype association study in 470 Tanzanians, Kenyans and Sudanese and identified three SNPs (G/C-14010, T/G-13915 and C/G-13907) that are associated with lactase persistence and that have derived alleles that significantly enhance transcription from the LCT promoter in vitro. These SNPs originated on different haplotype backgrounds from the European C/T-13910 SNP and from each other. Genotyping across a 3-Mb region demonstrated haplotype homozygosity extending >2.0 Mb on chromosomes carrying C-14010, consistent with a selective sweep over the past approximately 7,000 years. These data provide a marked example of convergent evolution due to strong selective pressure resulting from shared cultural traits-animal domestication and adult milk consumption.

Full Text

Duke Authors

Cited Authors

  • Tishkoff, SA; Reed, FA; Ranciaro, A; Voight, BF; Babbitt, CC; Silverman, JS; Powell, K; Mortensen, HM; Hirbo, JB; Osman, M; Ibrahim, M; Omar, SA; Lema, G; Nyambo, TB; Ghori, J; Bumpstead, S; Pritchard, JK; Wray, GA; Deloukas, P

Published Date

  • January 1, 2007

Published In

Volume / Issue

  • 39 / 1

Start / End Page

  • 31 - 40

PubMed ID

  • 17159977

Pubmed Central ID

  • PMC2672153

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng1946


  • eng