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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
  1. Eugenia Morales1,
  2. Lorena Azocar1,
  3. Ximena Maul2,
  4. Claudio Perez2,
  5. José Chianale1,
  6. Juan Francisco Miquel1
  1. 1Department of Gastroenterology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile
  2. 2Medical Students, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile
  1. Correspondence to Professor Juan Francisco Miquel; jfmiquel{at}


Background The lactase persistent (LP) or lactase non-persistent (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.

Objectives 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.

Design 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.

Results 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.

Conclusion 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.

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  • Funding This study was supported by grants of the National Commission of Scientific and Technological Research (FONDECYT N°1080325 to JFM), and of the Office of Research Affairs of the Pontificia Universidad Catolica de Chile, School of Medicine to EM and JFM (PG-42/06).

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Ethics approval was provided by the Ethics Committee of the Pontificia Universidad Católica de Chile

  • Contributors Study concept and design (JFM); acquisition of data (JFM, EM, LA, XM and CP); analysis and interpretation of data (JFM, EM, JC); drafting of the manuscript (JFM, EM, XM, CP, LA); critical revision of the manuscript for important intellectual content (JC); statistical analysis (JFM, EM, XM, CP); obtained funding (JFM, JC); final revision and edition (JFM, CP, XM, EM, LA, JC).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement Data deposited with Dryad.

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