Frontiers in Genetics (Sep 2021)
Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas
- Ana Cecília Guimarães Alves,
- Ana Cecília Guimarães Alves,
- Natalie Mary Sukow,
- Gabriel Adelman Cipolla,
- Marla Mendes,
- Thiago P. Leal,
- Maria Luiza Petzl-Erler,
- Maria Luiza Petzl-Erler,
- Ricardo Lehtonen Rodrigues Souza,
- Ricardo Lehtonen Rodrigues Souza,
- Ilíada Rainha de Souza,
- Ilíada Rainha de Souza,
- Cesar Sanchez,
- Meddly Santolalla,
- Douglas Loesch,
- Michael Dean,
- Moara Machado,
- Jee-Young Moon,
- Robert Kaplan,
- Robert Kaplan,
- Kari E. North,
- Scott Weiss,
- Mauricio L. Barreto,
- Mauricio L. Barreto,
- M. Fernanda Lima-Costa,
- M. Fernanda Lima-Costa,
- Heinner Guio,
- Heinner Guio,
- Omar Cáceres,
- Omar Cáceres,
- Carlos Padilla,
- Eduardo Tarazona-Santos,
- Ignacio F. Mata,
- Ignacio F. Mata,
- Ignacio F. Mata,
- Elena Dieguez,
- Víctor Raggio,
- Andres Lescano,
- Vitor Tumas,
- Vanderci Borges,
- Henrique B. Ferraz,
- Carlos R. Rieder,
- Artur Schumacher-Schuh,
- Artur Schumacher-Schuh,
- Bruno L. Santos-Lobato,
- Pedro Chana-Cuevas,
- William Fernandez,
- Gonzalo Arboleda,
- Humberto Arboleda,
- Carlos E. Arboleda-Bustos,
- Timothy D. O’Connor,
- Timothy D. O’Connor,
- Timothy D. O’Connor,
- Marcia Holsbach Beltrame,
- Marcia Holsbach Beltrame,
- Victor Borda
Affiliations
- Ana Cecília Guimarães Alves
- Laboratório de Genética Molecular Humana, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Ana Cecília Guimarães Alves
- Programa de Pós-Graduação em Genética, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Natalie Mary Sukow
- Laboratório de Genética Molecular Humana, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Gabriel Adelman Cipolla
- Laboratório de Genética Molecular Humana, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Marla Mendes
- Laboratório de Diversidade Genética Humana, Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
- Thiago P. Leal
- Laboratório de Diversidade Genética Humana, Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
- Maria Luiza Petzl-Erler
- Laboratório de Genética Molecular Humana, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Maria Luiza Petzl-Erler
- Programa de Pós-Graduação em Genética, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Ricardo Lehtonen Rodrigues Souza
- Programa de Pós-Graduação em Genética, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Ricardo Lehtonen Rodrigues Souza
- Laboratório de Polimorfismos e Ligação, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Ilíada Rainha de Souza
- Laboratório de Genética Molecular Humana, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Ilíada Rainha de Souza
- Laboratório de Polimorfismos Genéticos, Departamento de Biologia Celular, Embriologia e Genética, Centro de Ciências Biológicas, Universidade Federal de Santa Catarina, Florianópolis, Brazil
- Cesar Sanchez
- Laboratorio de Biotecnología y Biología Molecular, Instituto Nacional de Salud, Lima, Peru
- Meddly Santolalla
- Emerging Diseases and Climate Change Research Unit, School of Public Health and Administration, Universidad Peruana Cayetano Heredia, Lima, Peru
- Douglas Loesch
- Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, United States
- Michael Dean
- Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, United States
- Moara Machado
- Laboratório de Diversidade Genética Humana, Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
- Jee-Young Moon
- 0Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, United States
- Robert Kaplan
- 0Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, United States
- Robert Kaplan
- 1Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, United States
- Kari E. North
- 2Department of Epidemiology, Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States
- Scott Weiss
- 3Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, United States
- Mauricio L. Barreto
- 4Universidade Federal da Bahia, Instituto de Saúde Coletiva, Salvador, Brazil
- Mauricio L. Barreto
- 5Fundação Oswaldo Cruz, Centro de Integração de Dados e Conhecimentos para Saúde (Cidacs), Salvador, Brazil
- M. Fernanda Lima-Costa
- 6Fundação Oswaldo Cruz, Instituto René Rachou, Belo Horizonte, Brazil
- M. Fernanda Lima-Costa
- 7Universidade Federal de Minas Gerais, Programa de Pós-Graduação em Saúde Pública, Belo Horizonte, Brazil
- Heinner Guio
- Laboratorio de Biotecnología y Biología Molecular, Instituto Nacional de Salud, Lima, Peru
- Heinner Guio
- 8Facultad de Ciencias de la Salud, Universidad de Huánuco, Huánuco, Peru
- Omar Cáceres
- Laboratorio de Biotecnología y Biología Molecular, Instituto Nacional de Salud, Lima, Peru
- Omar Cáceres
- 9Carrera de Medicina Humana, Facultad de Ciencias de la Salud, Universidad Científica del Sur, Lima, Peru
- Carlos Padilla
- Laboratorio de Biotecnología y Biología Molecular, Instituto Nacional de Salud, Lima, Peru
- Eduardo Tarazona-Santos
- Laboratório de Diversidade Genética Humana, Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
- Ignacio F. Mata
- 0Veterans Affairs Puget Sound Health Care System, Seattle, WA, United States
- Ignacio F. Mata
- 1Department of Neurology, University of Washington, Seattle, WA, United States
- Ignacio F. Mata
- 2Lerner Research Institute, Genomic Medicine, Cleveland Clinic, Cleveland, OH, United States
- Elena Dieguez
- 3Neurology Institute, Universidad de la República, Montevideo, Uruguay
- Víctor Raggio
- 4Department of Genetics, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay
- Andres Lescano
- 3Neurology Institute, Universidad de la República, Montevideo, Uruguay
- Vitor Tumas
- 5Ribeirão Preto Medical School, Universidade de São Paulo, Ribeirão Preto, Brazil
- Vanderci Borges
- 6Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil
- Henrique B. Ferraz
- 6Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil
- Carlos R. Rieder
- 7Departamento de Neurologia, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
- Artur Schumacher-Schuh
- 8Serviço de Neurologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
- Artur Schumacher-Schuh
- 9Departamento de Farmacologia, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
- Bruno L. Santos-Lobato
- 0Instituto de Ciências da Saúde, Universidade Federal do Pará, Belém, Brazil
- Pedro Chana-Cuevas
- 1CETRAM, Facultad de Ciencias Médicas, Universidad de Santiago de Chile, Santiago, Chile
- William Fernandez
- 2Neuroscience and Cell Death Research Groups, Medical School and Genetic Institute, Universidad Nacional de Colombia, Bogotá, Colombia
- Gonzalo Arboleda
- 2Neuroscience and Cell Death Research Groups, Medical School and Genetic Institute, Universidad Nacional de Colombia, Bogotá, Colombia
- Humberto Arboleda
- 2Neuroscience and Cell Death Research Groups, Medical School and Genetic Institute, Universidad Nacional de Colombia, Bogotá, Colombia
- Carlos E. Arboleda-Bustos
- 2Neuroscience and Cell Death Research Groups, Medical School and Genetic Institute, Universidad Nacional de Colombia, Bogotá, Colombia
- Timothy D. O’Connor
- Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, United States
- Timothy D. O’Connor
- 3Program for Personalized and Genomic Medicine, School of Medicine, University of Maryland, Baltimore, Baltimore, MD, United States
- Timothy D. O’Connor
- 4Department of Medicine, School of Medicine, University of Maryland, Baltimore, Baltimore, MD, United States
- Marcia Holsbach Beltrame
- Laboratório de Genética Molecular Humana, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Marcia Holsbach Beltrame
- Programa de Pós-Graduação em Genética, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Brazil
- Victor Borda
- Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, United States
- DOI
- https://doi.org/10.3389/fgene.2021.671079
- Journal volume & issue
-
Vol. 12
Abstract
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 –13910∗T 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 –13910∗T 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 –13910∗T 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.
Keywords
