Tracing the distribution and evolution of lactase persistence in Southern Europe through the study of the T-13910 variant
Article first published online: 23 DEC 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Human Biology
Volume 21, Issue 2, pages 217–219, March/April 2009
How to Cite
Anagnostou, P., Battaggia, C., Coia, V., Capelli, C., Fabbri, C., Pettener, D., Destro-Bisol, G. and Luiselli, D. (2009), Tracing the distribution and evolution of lactase persistence in Southern Europe through the study of the T-13910 variant. Am. J. Hum. Biol., 21: 217–219. doi: 10.1002/ajhb.20851
- Issue published online: 10 FEB 2009
- Article first published online: 23 DEC 2008
- Manuscript Accepted: 17 OCT 2008
- Manuscript Revised: 15 OCT 2008
- Manuscript Received: 2 JUL 2008
- University of Rome “La Sapienza” (Progetti di Ateneo)
- Istituto Italiano di Antropologia, Roma
- Italia. Miur Prin Project. Grant Number: 2007 TYXE3X
We investigated the occurrence and intra-allelic variability of the T-13910 variant located upstream of the lactase gene in 965 individuals from 20 different locations of Italy and Greece. The T-13910 frequency ranges from 0.072 (Sardinia) to 0.237 (North-East Italy), with a statistically significant difference between North-East Italians and other Italian populations. The comparison of the lactose tolerance predicted by T-13910 and that assessed by other studies using physiological tests shows a one-way statistically significant discrepancy that could be due to sampling differences. However, the possible role of other genetic factors underlying lactase persistence is worth exploring. The time of the most recent common ancestor and departures from neutrality of the T-13910 allele were assessed using three microsatellite loci. Time estimates were found to be congruent with the appearance of dairy farming in Southern Europe and the occurrence of a single introgression event. Robust signals of selection can be observed in North-East Italy only. We discuss the possible role of cultural traits and genetic history in determining these observed micro-evolutionary patterns. Am. J. Hum. Biol. 2009. © 2008 Wiley-Liss, Inc.