Food-Intolerance Genetic Testing: A Useful Tool for the Dietary Management of Chronic Gastrointestinal Disorders

Author:

Celi Alexandra1,Trelis María12ORCID,Ponce Lorena3,Ortiz Vicente4,Garrigues Vicente45,Soriano José M.16ORCID,Merino-Torres Juan F.157ORCID

Affiliation:

1. Joint Research Unit on Endocrinology, Nutrition and Clinical Dietetics, Health Research Institute La Fe, 46026 Valencia, Spain

2. Parasite & Health Research Group, Area of Parasitology, Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, 46010 Valencia, Spain

3. Department of Bioinformatics, Overgenes S.L., 46980 Valencia, Spain

4. Digestive Functional Disorders Unit, Department of Gastroenterology, University and Polytechnic Hospital La Fe, 46026 Valencia, Spain

5. Department of Medicine, Faculty of Medicine, University of Valencia, 46010 Valencia, Spain

6. Food & Health Lab, Institute of Materials Science, University of Valencia, 46980 Valencia, Spain

7. Department of Endocrinology and Nutrition, University and Polytechnic Hospital La Fe, 46026 Valencia, Spain

Abstract

The rise in food intolerances and celiac disease, along with advanced diagnostic techniques, has prompted health professionals to seek effective and economical testing methods. This study evaluates combining genetic tests with routine carbohydrate-absorption breath tests to classify patients with chronic gastrointestinal disorders into therapeutic groups, enhancing dietary management and improving gut health and quality of life. Forty-nine patients with suspected carbohydrate intolerance underwent genetic testing for lactase non-persistence, hereditary fructose intolerance, and celiac disease risk. Simultaneously, breath tests assessed lactose and fructose absorption. The lactase non-persistence genotype appeared in 36.7% of cases, with one hereditary fructose-intolerance case in a heterozygous condition. Celiac disease risk markers (HLA-DQ2/8 haplotypes) were found in 49.0% of the population. Secondary lactose and/or fructose malabsorption was present in 67.3% of patients, with 66.1% of lactase non-persistence individuals showing secondary lactose malabsorption. Fructose malabsorption was prevalent in 45.8% of patients at risk for celiac disease. Two main treatment groups were defined based on genetic results, indicating primary and irreversible gastrointestinal disorder causes, followed by a sub-classification using breath test results. Genetic testing is a valuable tool for designing dietary management plans, avoiding unnecessary diet restrictions, and reducing recovery times.

Funder

Ministerio de Ciencia, Tecnología e Innovación

Publisher

MDPI AG

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