Related Experiment Video
Updated: May 16, 2026

04:41
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.
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.
Related Concept Videos
Type I Diabetes I: Introduction
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
Type I Diabetes II: Pathophysiology
Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...
Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Inflammatory Bowel Disease III: Crohn's Disease
Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
