Title
Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas
Date Issued
22 September 2021
Access level
open access
Resource Type
journal article
Author(s)
Guimarães Alves A.C.
Sukow N.M.
Adelman Cipolla G.
Mendes M.
Leal T.P.
Petzl-Erler M.L.
Lehtonen Rodrigues Souza R.
Rainha de Souza I.
Loesch D.
Dean M.
Machado M.
Moon J.Y.
Kaplan R.
North K.E.
Weiss S.
Barreto M.L.
Lima-Costa M.F.
Mata I.F.
Dieguez E.
Raggio V.
Tumas V.
Borges V.
Ferraz H.B.
Rieder C.R.
Schumacher-Schuh A.
Santos-Lobato B.L.
Chana-Cuevas P.
Fernandez W.
Arboleda G.
Arboleda H.
Arboleda-Bustos C.E.
O’Connor T.D.
Beltrame M.H.
Universidade Federal de Minas Gerais
Universidad de la República
University of Maryland School of Medicine
Publisher(s)
Frontiers Media S.A.
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.
Volume
12
Language
English
OCDE Knowledge area
Genética humana
Scopus EID
2-s2.0-85116585147
Source
Frontiers in Genetics
ISSN of the container
1664-8021
Sponsor(s)
This work was supported by scholarships from the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES/PROAP—Finance Code 001), Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), and Fundação Araucária, Brazil, provided to AG and NS. The Hispanic Community Health Study/Study of Latinos is a collaborative study supported by contracts from the National Heart, Lung, and Blood Institute (NHLBI) to The University of North Carolina (HHSN268201300001I/N01-HC-65233), University of Miami (HHSN268201300004I/N01-HC-65234), Albert Einstein College of Medicine (HHSN268201300002I/N01-HC-65235), the University of Illinois at Chicago (HHSN268201300003I/N01-HC-65236 Northwestern University), and San Diego State University (HHSN268201300005I/N01-HC-65237). The following Institutes/Centers/Offices have contributed to the HCHS/SOL through a transfer of funds to the NHLBI: National Institute on Minority Health and Health Disparities, National Institute on Deafness and Other Communication Disorders, National Institute of Dental and Craniofacial Research, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Neurological Disorders and Stroke, and NIH Institution-Office of Dietary Supplements. Genome sequencing for “NHLBI TOPMed: Whole Genome sequencing in the Hispanic Community Health Study/Study of Latinos” (phs001395) was performed at the Baylor College of Medicine, Human Genome Sequencing Center (HHSN268201600033I). Core support, including centralized genomic read mapping and genotype calling, along with variant quality metrics and filtering, was provided by the TOPMed Informatics Research Center (3R01HL-117626-02S1; contract HHSN268201800002I). Core support, including phenotype harmonization, data management, sample-identity QC, and general program coordination was provided by the TOPMed Data Coordinating Center (R01HL-120393; U01HL-120393; contract HHSN268201800001I). RK was supported by R01-MD011389-01 from the National Institute on Minority Health and Health Disparities. LARGE-PD was supported by a Stanley Fahn Junior Faculty Award and an International Research Grants Program award.
Sources of information: Directorio de Producción Científica Scopus