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Lactase persistence versus lactose intolerance: Is there an intermediate phenotype?
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2016 (English)In: Clinical Biochemistry, ISSN 0009-9120, E-ISSN 1873-2933, Vol. 49, no 3, 248-252 p.Article in journal (Refereed) Published
Abstract [en]

Background: According to the prevailing theory about the genetic background to lactose intolerance, there are three genotypes but only two adult physiological phenotypes: lactase persistence in individuals with the CT and TT genotypes and lactase non-persistence in individuals with the CC genotype. However, analysis of lactase activity from intestinal biopsies has revealed three distinct levels of activity, suggesting that an intermediate physiological phenotype may exist. Aim: To assess possible disparities between different genotypes with regard to biomarkers of lactase activity and physical symptoms during an oral lactose load test. Methods: A retrospective study using an oral lactose load test (n = 487). Concentrations of hydrogen in exhaled air and blood glucose were measured. Afterwards, subjects were asked to provide oral mucosa samples for genotyping and answer a questionnaire (participation rate 56%, n = 274). Results: Mean hydrogen levels in exhaled air at 120 min were significantly higher in the CT genotype than in the TT genotype. There was no significant difference in blood glucose levels between the two groups. Reported symptoms, with the possible exception of abdominal pain, were equally prevalent in both groups. Conclusions: Subjects with the CT and TT genotypes, hitherto classified as lactase-persistent, differ in their physiological response to lactose intake, indicating differences in phenotype which could have clinical significance. 

Place, publisher, year, edition, pages
2016. Vol. 49, no 3, 248-252 p.
Keyword [en]
13910 C/T allele, Oral lactose load test, Hydrogen breath test, Abdominal pain
National Category
Biomedical Laboratory Science/Technology
Identifiers
URN: urn:nbn:se:umu:diva-130003DOI: 10.1016/j.clinbiochem.2015.11.001ISI: 000369153100010PubMedID: 26601570OAI: oai:DiVA.org:umu-130003DiVA: diva2:1064306
Available from: 2017-01-12 Created: 2017-01-11 Last updated: 2017-01-12Bibliographically approved

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CiteExportLink to record
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  • apa
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