Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans

Nabil Sabri Enattah, Aimee Trudeau, Ville Pimenoff, Luigi Maiuri, Salvatore Auricchio, Luigi Greco, Mauro Rossi, Michael Lentze, J. K. Seo, Soheila Rahgozar, Insaf Khalil, Michael Alifrangis, Sirajedin Natah, Leif Groop, Nael Shaat, Andrew Kozlov, Galina Verschubskaya, David Comas, Kazima Bulayeva, S. Qasim MehdiJoseph D. Terwilliger, Timo Sahi, Erkki Savilahti, Markus Perola, Antti Sajantila, Irma Järvelä, Leena Peltonen

Research output: Contribution to journalArticlepeer-review


A single-nucleotide variant, C/T-13910, located 14 kb upstream of the lactase gene (LCT), has been shown to be completely correlated with lactase persistence (LP) in northern Europeans. Here, we analyzed the background of the alleles carrying the critical variant in 1,611 DNA samples from 37 populations. Our data show that the T-13910 variant is found on two different, highly divergent haplotype backgrounds in the global populations. The first is the most common LP haplotype (LP H98) present in all populations analyzed, whereas the others (LP H8-H12), which originate from the same ancestral allelic haplotype, are found in geographically restricted populations living west of the Urals and north of the Caucasus. The global distribution pattern of LP T-13910 H98 supports the Caucasian origin of this allele. Age estimates based on different mathematical models show that the common LP T-13910 H98 allele (∼5,000-12,000 years old) is relatively older than the other geographically restricted LP alleles (∼1,400-3,000 years old). Our data about global allelic haplotypes of the lactose-tolerance variant imply that the T-13910 allele has been independently introduced more than once and that there is a still-ongoing process of convergent evolution of the LP alleles in humans.

Original languageEnglish
Pages (from-to)615-625
Number of pages11
JournalAmerican Journal of Human Genetics
Issue number3
Publication statusPublished - Sept 2007

ASJC Scopus subject areas

  • Genetics


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