RESEARCH – June 2007

Inherited primary hypolactasia: genotypes and their association with milk intolerance

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Abstract

The aim of this study was to find the prevalence of adult-type hypolactasia in Estonians using genotyping of C/T13910 polymorphism and to find out if there are differences in milk consumption and milk intolerance as well as differences in abdominal complaints in individuals with different genotypes of the C/T13910 variant.
Methods. The study was carried out in Väike- Maarja. A random sample (n = 434) of the population aged 25–70 years was drawn, the sample corresponded to the age and gender structure of the general population in Estonia. Altogether 84% of the subjects participated in the study. Genotyping was performed in 355 Estonians by polymerase chain reaction and direct sequencing. Milk consumption and abdominal complaints were analysed using a special questionnaire.
Results. The frequency of the genotype of C/C13910 (hypolactasia) in native Estonians was established to be 24.8%. Persons with hypolactasia were found to consume less milk, and to have more abdominal complaints than individuals with the genotypes defining high lactase activity in adulthood.
Conclusion. The frequency of hypolactasia defined by the C/C13910 genotype confirms the results of previous studies based on indirect methods of determining hypolactasia. Although individuals with hypolactasia have more abdominal complaints than persons with high lactase activity, hypolactasia does not prevent intake of milk in moderate amounts in many adults.