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Transcriptional downregulation of the lactase (LCT) gene during childhood
  1. H Rasinperä1,
  2. M Kuokkanen2,
  3. K-L Kolho3,
  4. H Lindahl3,
  5. N S Enattah4,
  6. E Savilahti5,
  7. A Orpana6,
  8. I Järvelä7
  1. 1Department of Medical Genetics, University of Helsinki, Finland
  2. 2Department of Medical Genetics, University of Helsinki, Finland, and National Public Health Institute, Department of Molecular Medicine, Helsinki, Finland
  3. 3Hospital for Children and Adolescents, University of Helsinki, Finland
  4. 4Department of Medical Genetics, University of Helsinki, Finland, and National Public Health Institute, Department of Molecular Medicine, Helsinki, Finland
  5. 5Hospital for Children and Adolescents, University of Helsinki, Finland
  6. 6Department of Medical Genetics, University of Helsinki, Finland, Helsinki University Central Hospital, Laboratory of Molecular Genetics, Helsinki, Finland, and Department of Clinical Chemistry, University of Helsinki, Finland
  7. 7Department of Medical Genetics, University of Helsinki, Finland, and Helsinki University Central Hospital, Laboratory of Molecular Genetics, Helsinki, Finland
  1. Correspondence to:
    Dr I Järvelä
    Helsinki University Central Hospital, Laboratory of Molecular Genetics, Haartmaninkatu 2, PO Box 140, FIN-00290 Helsinki, Finland; irma.jarvelahus.fi

https://doi.org/10.1136/gut.2005.077404

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    Adult-type hypolactasia, characterised by bloating, gas formation, and diarrhoea after ingestion of lactose containing food, affects half of the world’s population.1 The molecular background of lactase non-persistence/persistence trait has been shown to associate with a single nucleotide polymorphism (SNP) C/T−13910 residing 13910 base pairs upstream from the 5′ end of the lactase (LCT) gene in an intron of the minichromosome maintenance 6 (MCM6) gene.2–4 We have demonstrated a trimodal distribution of lactase activity in the intestinal mucosa in adults, with low lactase activity (4–9 U/g protein) in those with the C/C−13910 genotype.3 The C−13910 and T−13910 allele show differential regulation of lactase promoter activity and binding capacity for the nuclear proteins in electromobility shift assay.5,6 Our recent analysis in a paediatric population demonstrated that the main time period for lactase downregulation in Finns and in Somalians is from five to 10 years of age.4

    To further assess the role …

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    Footnotes

    • Conflict of interest: None declared.