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Related Experiment Videos

Lactose intolerance: lactose tolerance test versus genotyping.

Peter Ridefelt1, Lena D Håkansson

  • 1Department of Medical Sciences, Clinical Chemistry, University Hospital, Uppsala, Sweden. peter.ridefelt@medsci.uu.se

Scandinavian Journal of Gastroenterology
|August 20, 2005
PubMed
Summary

Genetic testing for the C-13910T polymorphism can effectively screen for adult lactose intolerance in European populations. This genotyping method shows high concordance with traditional lactose tolerance tests.

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Area of Science:

  • Genetics
  • Gastroenterology
  • Biochemistry

Background:

  • Adult lactose intolerance is a widespread condition affecting the majority of the global population.
  • It is often linked to a specific genetic variation, the C-13910T single nucleotide polymorphism, located near the lactase gene.

Purpose of the Study:

  • To investigate the association between the C-13910T polymorphism and lactose intolerance in adults.
  • To evaluate the utility of genotyping as a diagnostic tool for lactose intolerance.

Main Methods:

  • The study included 51 adult patients (44 Swedish, 7 non-Swedish) who underwent lactose tolerance tests.
  • Plasma glucose levels were measured after a lactose challenge.
  • A real-time PCR method was developed and used for genotyping the C-13910T polymorphism.

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Main Results:

  • Genotyping results were concordant with lactose tolerance test outcomes in 48 out of 51 patients.
  • Individuals with -13910T/T and -13910C/T genotypes exhibited significant plasma glucose elevations, indicating lactose intolerance.
  • No gene-dose effect was observed; heterozygous individuals (-13910C/T) showed high glucose increases similar to homozygous T/T individuals.

Conclusions:

  • Genotyping for the C-13910T polymorphism can serve as a reliable first-stage screening test for adult lactose intolerance in individuals of European descent.
  • Combined use of genotyping and tolerance tests is recommended for children and suspected cases of secondary lactose intolerance.