Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas

Ana Cecília Guimarães Alves, Natalie Mary Sukow, Gabriel Adelman Cipolla, Marla Mendes, Thiago P. Leal, Maria Luiza Petzl-Erler, Ricardo Lehtonen Rodrigues Souza, Ilíada Rainha de Souza, Cesar Sanchez, Meddly Santolalla, Douglas Loesch, Michael Dean, Moara Machado, Jee Young Moon, Robert Kaplan, Kari E. North, Scott Weiss, Mauricio L. Barreto, M. Fernanda Lima-Costa, Heinner GuioOmar Cáceres, Carlos Padilla, Eduardo Tarazona-Santos, Ignacio F. Mata, Elena Dieguez, Víctor Raggio, Andres Lescano, Vitor Tumas, Vanderci Borges, Henrique B. Ferraz, Carlos R. Rieder, Artur Schumacher-Schuh, Bruno L. Santos-Lobato, Pedro Chana-Cuevas, William Fernandez, Gonzalo Arboleda, Humberto Arboleda, Carlos E. Arboleda-Bustos, Timothy D. O’Connor, Marcia Holsbach Beltrame, Victor Borda

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


In adulthood, the ability to digest lactose, the main sugar present in milk of mammals, is a phenotype (lactase persistence) observed in historically herder populations, mainly Northern Europeans, Eastern Africans, and Middle Eastern nomads. As the –13910T allele in the MCM6 gene is the most well-characterized allele responsible for the lactase persistence phenotype, the –13910C > T (rs4988235) polymorphism is commonly evaluated in lactase persistence studies. Lactase non-persistent adults may develop symptoms of lactose intolerance when consuming dairy products. In the Americas, there is no evidence of the consumption of these products until the arrival of Europeans. However, several American countries’ dietary guidelines recommend consuming dairy for adequate human nutrition and health promotion. Considering the extensive use of dairy and the complex ancestry of Pan-American admixed populations, we studied the distribution of –13910C > T lactase persistence genotypes and its flanking haplotypes of European origin in 7,428 individuals from several Pan-American admixed populations. We found that the –13910T allele frequency in Pan-American admixed populations is directly correlated with allele frequency of the European sources. Moreover, we did not observe any overrepresentation of European haplotypes in the –13910C > T flanking region, suggesting no selective pressure after admixture in the Americas. Finally, considering the dominant effect of the –13910T allele, our results indicate that Pan-American admixed populations are likely to have higher frequency of lactose intolerance, suggesting that general dietary guidelines deserve further evaluation across the continent.

Original languageEnglish
Article number671079
JournalFrontiers in Genetics
StatePublished - 22 Sep 2021
Externally publishedYes


  • dairy consumption
  • lactose intolerance
  • Latin America
  • MCM6 gene
  • nutrition policies
  • population genetics
  • –13910C > T


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