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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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Conflict of interest: None declared.