ArticleGut2004
A genetic test which can be used to diagnose adult-type hypolactasia in children.
Article in Gut, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 210 citations in OpenAlex.
- Can lactase persistence genotype be used to reassess the relationship between renal cell carcinoma and milk drinking? Potentials and problems in the application of Mendelian randomization.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2010Trial
- Inverse dose effect of pretest dietary lactose intake on breath hydrogen results and symptoms in lactase nonpersistent subjects.Digestive diseases and sciences · 2005Trial
- Community based countrywide analysis of lactase persistence related genetic variants and their correlation with digestive symptoms in Libya.PLOS global public health · 2026Article
- Prebiotic Strategies to Manage Lactose Intolerance Symptoms.Nutrients · 2024Review
- Genetic and cultural adaptations underlie the establishment of dairy pastoralism in the Tibetan Plateau.BMC biology · 2023Article
- Genetic Predisposition to Primary Lactose Intolerance Does Not Influence Dairy Intake and Health-Related Quality of Life in Romanian Children: A Hospital-Based Cross-Sectional Study.Children (Basel, Switzerland) · 2023Article
- Origins of human disease: the chrono-epigenetic perspective.Nature reviews. Genetics · 2021Review
- Hydrogen Breath Tests: Are They Really Useful in the Nutritional Management of Digestive Disease?Nutrients · 2021Review
- Assessment of the Nutritional Status, Diet and Intestinal Parasites in Hosted Saharawi Children.Children (Basel, Switzerland) · 2020Article
- Why and when was lactase persistence selected for? Insights from Central Asian herders and ancient DNA.PLoS biology · 2020Article
- Roles of Lactose and Fructose Malabsorption and Dietary Outcomes in Children Presenting with Chronic Abdominal Pain.Nutrients · 2019Article
- Comparison of Lactase Variant MCM6 -13910 C>T Testing and Self-report of Dairy Sensitivity in Patients With Irritable Bowel Syndrome.Journal of clinical gastroenterology · 2019Article
- Precision Nutrition: A Review of Personalized Nutritional Approaches for the Prevention and Management of Metabolic Syndrome.Nutrients · 2017Review
- Lactose intolerance and gastrointestinal cow's milk allergy in infants and children - common misconceptions revisited.The World Allergy Organization journal · 2017Review
- The Diverse Forms of Lactose Intolerance and the Putative Linkage to Several Cancers.Nutrients · 2015Review
- Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry.Journal of pediatric gastroenterology and nutrition · 2015Article
- A diagnostic approach to patients with suspected lactose malabsorption.Digestive diseases and sciences · 2014Article
- Correlation of G/A -22018 single-nucleotide polymorphism with lactase activity and its usefulness in improving the diagnosis of adult-type hypolactasia among North Indian children.Genes & nutrition · 2013Article
- Evaluation of a genetic test for diagnose of primary hypolactasia in northeast of iran (khorasan).Iranian journal of basic medical sciences · 2012Article
- Lactase persistence, NOD2 status and Mycobacterium avium subsp. paratuberculosis infection associations to Inflammatory Bowel Disease.Gut pathogens · 2012Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimsAdult-type hypolactasia (primary lactose malabsorption) affects most of world's human population and limits the use of fresh milk due to lactose intolerance. The diagnosis of adult-type hypolactasia has been difficult to establish because of unsatisfactory diagnostic methods. C/T(-13910) single nucleotide polymorphism residing 13910 base pairs from the 5' end of the lactase gene has been shown to be associated with lactase persistence. The aim of the study was to assess the applicability of the C/T(-13910) variant as a diagnostic test for adult-type hypolactasia during childhood.
methodsIntestinal biopsies were obtained from 329 children and adolescents of African, Finnish, and other White origins aged 0.1-20 years undergoing upper gastrointestinal endoscopy because of abdominal complaints. The biopsies were assayed for lactase, sucrase, and maltase activity and genotyped for the C/T(-13910) variant using polymerase chain reaction minisequencing.
resultsThe frequency of the C/C(-13910) genotype defining lactase non-persistence was well in agreement in this study with published figures for the prevalences of adult-type hypolactasia in Africans and Whites. The C/C(-13910) genotype was associated with very low lactase activity (<10 U/g protein) in the majority of children tested at 8 years of age and in every child older than 12 years of age giving a specificity of 100% and sensitivity of 93% for the genetic test. The decline of lactase activity was somewhat earlier in African compared with Finnish children with C/C(-13910) genotype (p<0.03).
conclusionsGenetic test of C/T(-13910) polymorphism can be used as a first stage screening test for adult-type hypolactasia.
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