The European lactase persistence genotype determines the lactase persistence state and correlates with gastrointestinal symptoms in the Hispanic and Amerindian Chilean population: a case-control and population-based study

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dc.contributor.authorMorales, Eugenia
dc.contributor.authorAzocar, Lorena
dc.contributor.authorMaul, Ximena
dc.contributor.authorPerez, Claudio
dc.contributor.authorChianale, Jose
dc.contributor.authorFrancisco Miquel, Juan
dc.date.accessioned2024-01-10T13:43:48Z
dc.date.available2024-01-10T13:43:48Z
dc.date.issued2011
dc.description.abstractBackground: The lactase persistent (LP) or lactase nonpersistent (LNP) state in European adults is genetically determined by a single nucleotide polymorphism (SNP) located 13.9 kb upstream of the lactase (LCT) gene, known as LCT C>T-13910 (rs4988235). The LNP condition leads to an inability to digest the milk sugar lactose leading to gastrointestinal symptoms and can affect nutrient and calcium intake in certain populations.
dc.description.abstractObjectives: The authors studied a group of 51 Chilean patients to assess whether this SNP influences the LP/LNP state in this population, and determined the prevalence of LCT C>T-13910 genotypes in a representative sample of 216 Hispanics and 43 Amerindians with correlation to digestive symptoms.
dc.description.abstractDesign: Case-control study done in Chilean patients with clinical suspicion of LNP that were assessed using clinical survey, hydrogen breath test (HBT) and SNP genotyping. The population sample of Hispanics and Amerindians was assessed by clinical survey and SNP genotyping.
dc.description.abstractResults: Of the 51 patients with clinical suspicion of LNP, 29 were HBT-positive. The CC genotype (LNP) was present in 89.7% of the patients with positive HBT and in only 4.7% of those with negative HBT. The prevalence of the CC genotype was 56.9% in the Hispanic population and 88.3% in Amerindians, and was associated with a higher self-reported clinical intolerance to ingestion of dairy products.
dc.description.abstractConclusion: The LP/LNP state is determined by the LCT C>T-13910 variant in Chileans. This variant predicts digestive symptoms associated with the ingestion of lactose and is a good tool for the diagnosis of primary adult hypolactasia. The LCT T-13910 allele is rare in the Amerindian population and is suggestive of European ancestry in this contemporary population.
dc.description.funderNational Commission of Scientific and Technological Research (FONDECYT)
dc.description.funderOffice of Research Affairs of the Pontificia Universidad Catolica de Chile, School of Medicine
dc.fechaingreso.objetodigital2024-05-06
dc.format.extent8 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1136/bmjopen-2011-000125
dc.identifier.issn2044-6055
dc.identifier.pubmedidMEDLINE:22021768
dc.identifier.urihttps://doi.org/10.1136/bmjopen-2011-000125
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/78758
dc.identifier.wosidWOS:000208638000050
dc.information.autorucMedicina;Azocar L;S/I;1006324
dc.information.autorucMedicina;Chianale J;S/I;99780
dc.information.autorucMedicina;Maul X;S/I;156256
dc.information.autorucMedicina;Miquel F;S/I;72216
dc.information.autorucMedicina;Morales E;S/I;159747
dc.issue.numero1
dc.language.isoen
dc.nota.accesocontenido completo
dc.publisherBMJ PUBLISHING GROUP
dc.revistaBMJ OPEN
dc.rightsacceso abierto
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleThe European lactase persistence genotype determines the lactase persistence state and correlates with gastrointestinal symptoms in the Hispanic and Amerindian Chilean population: a case-control and population-based study
dc.typeartículo
dc.volumen1
sipa.codpersvinculados1006324
sipa.codpersvinculados99780
sipa.codpersvinculados156256
sipa.codpersvinculados72216
sipa.codpersvinculados159747
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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