{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T12:27:44Z","timestamp":1780576064163,"version":"3.54.1"},"reference-count":83,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T00:00:00Z","timestamp":1674604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hum Biol"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Uruguay has one of the highest per capita milk intakes worldwide, even with a limited supply of lactose\u2010free products; furthermore, the admixed nature of its population is well known, and various frequencies of lactase persistence (LP) are observed in the source populations. We aimed to contribute to the understanding of the relation between allelic variants associated with LP, milk consumption, digestive symptoms, and genetic ancestry in the Uruguayan population. Samples of saliva or peripheral blood were collected from 190 unrelated individuals from two regions of Uruguay, genotypes for polymorphic sites in a fragment within the LCT enhancer were determined and allelic frequencies calculated in all of them. Data were collected on frequency of milk and dairy consumption and self\u2010reported symptoms in a subsample of 153 individuals. Biparental and maternal ancestry was determined by analyzing individual ancestry markers and mitochondrial DNA. Twenty\u2010nine percentage of individuals reported symptoms attributed to the ingestion of fresh milk, with abdominal pain, bloating and flatulence being the most frequent. European LP\u2010associated allele T\u201013910 showed a frequency of 33%, while other LP\u2010associated alleles like G\u201013915 and T\u201014011 were observed in very low frequencies. Associations between self\u2010reported symptoms, fresh milk intake, and C\/T\u201013910 genotype were statistically significant. No evidence of association between genetic ancestry and C\/T\u201013910 was found, although individuals carrying one T\u201013910 allele appeared to have more European ancestry. In conclusion, the main polymorphism capable of predicting lactose intolerance in Uruguayans is C\/T\u201013910, although more studies are required to unravel the relation between genotype and lactase activity, especially in heterozygotes.<\/jats:p>","DOI":"10.1002\/ajhb.23868","type":"journal-article","created":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T11:50:32Z","timestamp":1674647432000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>DNA<\/scp> polymorphisms associated with lactase persistence, self\u2010perceived symptoms of lactose intolerance, milk and dairy consumption, and ancestry, in the Uruguayan population"],"prefix":"10.1002","volume":"35","author":[{"given":"Ra\u00fal Germ\u00e1n Negro","family":"Gaudin","sequence":"first","affiliation":[{"name":"Departamento de Antropolog\u00eda Biol\u00f3gica, Facultad de Humanidades y Ciencias de la Educaci\u00f3n Universidad de la Rep\u00fablica  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gonzalo","family":"Figueiro","sequence":"additional","affiliation":[{"name":"Departamento de Antropolog\u00eda Biol\u00f3gica, Facultad de Humanidades y Ciencias de la Educaci\u00f3n Universidad de la Rep\u00fablica  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Flores\u2010Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Departamento de Antropolog\u00eda Biol\u00f3gica, Facultad de Humanidades y Ciencias de la Educaci\u00f3n Universidad de la Rep\u00fablica  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5284-0277","authenticated-orcid":false,"given":"Patricia","family":"Mut","sequence":"additional","affiliation":[{"name":"Departamento de Antropolog\u00eda Biol\u00f3gica, Facultad de Humanidades y Ciencias de la Educaci\u00f3n Universidad de la Rep\u00fablica  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasser","family":"Vega\u2010Requena","sequence":"additional","affiliation":[{"name":"Polo de Desarrollo Universitario Diversidad Gen\u00e9tica Humana, Centro Universitario Regional Noreste, Tacuaremb\u00f3 Universidad de la Rep\u00fablica  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Luna\u2010Andrada","sequence":"additional","affiliation":[{"name":"Polo de Desarrollo Universitario Diversidad Gen\u00e9tica Humana, Centro Universitario Regional Noreste, Tacuaremb\u00f3 Universidad de la Rep\u00fablica  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Ackermann","sequence":"additional","affiliation":[{"name":"Polo de Desarrollo Universitario Diversidad Gen\u00e9tica Humana, Centro Universitario Regional Noreste, Tacuaremb\u00f3 Universidad de la Rep\u00fablica  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro C.","family":"Hidalgo","sequence":"additional","affiliation":[{"name":"Polo de Desarrollo Universitario Diversidad Gen\u00e9tica Humana, Centro Universitario Regional Noreste, Tacuaremb\u00f3 Universidad de la Rep\u00fablica  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel","family":"Carracedo","sequence":"additional","affiliation":[{"name":"Grupo de Medicina Xen\u00f3mica, Centro en Red de Enfermedades Raras (CIBERER) Universidade de Santiago de Compostela  Santiago de Compostela Spain"},{"name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica (SERGAS)\u2010CIBERER Universidad de Santiago de Compostela  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Torres","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica (SERGAS)\u2010CIBERER Universidad de Santiago de Compostela  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1564-8761","authenticated-orcid":false,"given":"M\u00f3nica","family":"Sans","sequence":"additional","affiliation":[{"name":"Departamento de Antropolog\u00eda Biol\u00f3gica, Facultad de Humanidades y Ciencias de la Educaci\u00f3n Universidad de la Rep\u00fablica  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,25]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0043978"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/nu7095332"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/13779"},{"key":"e_1_2_10_5_1","first-page":"300","article-title":"An overview of cow's milk allergy in children","volume":"139","author":"Benhamou A. 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