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Related Experiment Video

Updated: May 16, 2026

Measuring Lactase Enzymatic Activity in the Teaching Lab

Measuring Lactase Enzymatic Activity in the Teaching Lab

Published on: August 6, 2018

Association between celiac disease and primary lactase deficiency.

M S Basso¹, R Luciano, F Ferretti

¹Hepatology, Gastroenterology and Nutrition Unit, Pediatric Hospital Bambino Gesu' Rome, Italy. msole.basso@opbg.net

European Journal of Clinical Nutrition

|December 6, 2012

Summary

Primary lactase deficiency (PLD) is common in Italian children with celiac disease (CD) and controls. Genetic testing revealed no significant difference in PLD prevalence between celiac and non-celiac populations.

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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

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Area of Science:

Genetics
Gastroenterology
Human Biology

Background:

Primary lactase deficiency (PLD) is an inherited condition characterized by reduced lactase activity.
Lactase nonpersistence is linked to specific single-nucleotide polymorphisms upstream of the lactase gene.
Celiac disease (CD) patients may experience lactose intolerance due to secondary lactase deficiency or PLD.

Purpose of the Study:

To investigate the association between PLD and CD using genetic markers.
To determine the prevalence of PLD in celiac subjects compared to a control group.

Main Methods:

Genetic analysis of two single-nucleotide polymorphisms (C/T-13910 and G/A-22018) associated with lactase nonpersistence.
Study included 92 biopsy-proven celiac disease patients and 188 controls from Italy.
Genotyping for lactase gene polymorphisms was performed on all participants.

Main Results:

Over 70% of all subjects, both celiac and control, were homozygous for the studied polymorphisms.
No statistically significant difference in the prevalence of primary lactase deficiency was observed between celiac disease patients and the control population.
The genetic predisposition for lactase deficiency is equally common in both groups.

Conclusions:

Hereditary lactase deficiency is prevalent in the Italian population, including children with celiac disease.
Celiac disease does not appear to influence the prevalence of primary lactase deficiency based on genetic markers.
The findings suggest that genetic factors for lactase persistence/nonpersistence are independent of celiac disease status in this cohort.