ArticleGut2003
Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia.
Article in Gut, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
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Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 205 citations in OpenAlex.
- Pooled it
- Association of lactase persistence genotype with milk consumption, obesity and blood pressure: a Mendelian randomization study in the 1982 Pelotas (Brazil) Birth Cohort, with a systematic review and meta-analysis.International journal of epidemiology · 2016Pooled it
- Anthocyanins and Metabolic Disease: A New Frontier in Precision Nutrition.Antioxidants (Basel, Switzerland) · 2026Review
- Lactase Persistence-Associated rs4988235 Polymorphism: A Novel Genetic Link to Cardiovascular Risk via Modulation of ApoB100 and ApoAI.Nutrients · 2025Article
- Lactose intolerance and levothyroxine malabsorption: a review of the literature and report of a series of patients treated with liquid L-T4 without lactose.Frontiers in endocrinology · 2024Review
- Article
- Adult lactose intolerance, calcium intake, bone metabolism and bone density in German-Turkish immigrants.Journal of bone and mineral metabolism · 2020Article
- Article
- 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
- Congruency of Genetic Predisposition to Lactase Persistence and Lactose Breath Test.Nutrients · 2019Article
- Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.Nutrients · 2019Review
- Dairy intake revisited - associations between dairy intake and lifestyle related cardio-metabolic risk factors in a high milk consuming population.Nutrition journal · 2018Article
- Association of LCT-13910 C/T Polymorphism and Colorectal Cancer.Annals of coloproctology · 2017Article
- In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence.Annals of human genetics · 2016Article
- Predicting Carriers of Ongoing Selective Sweeps without Knowledge of the Favored Allele.PLoS genetics · 2015Article
- 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
- Long term differential consequences of miglustat therapy on intestinal disaccharidases.Journal of inherited metabolic disease · 2014Article
- A diagnostic approach to patients with suspected lactose malabsorption.Digestive diseases and sciences · 2014Article
- A comparative study on the metabolism of Epimedium koreanum Nakai-prenylated flavonoids in rats by an intestinal enzyme (lactase phlorizin hydrolase) and intestinal flora.Molecules (Basel, Switzerland) · 2013Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimsThe mechanism of the developmental downregulation of the lactase-phlorizin hydrolase (LPH) gene underlying adult-type hypolactasia is unknown. We have determined the functional significance of the recently identified two single nucleotide polymorphisms (SNPs), C/T(-13910) and G/A(-22018), associated with adult-type hypolactasia by studying LPH mRNA levels in intestinal biopsy samples with different genotypes.
methodsIntestinal biopsy samples were taken from 52 patients with abdominal complaints. Hypolactasia was diagnosed by determining lactase and sucrase activities and calculating their ratio (L/S ratio). The functional effect of the C/T(-13910) and G/A(-22018) genotype on expression of LPH mRNA was demonstrated in patients heterozygous for the C/T(-13910) and G/A(-22018) polymorphism and an informative expressed SNP located in the coding region of the LPH mRNA. Reverse transcription-polymerase chain reaction followed by solid phase minisequencing was used for accessing the relative expression levels of the LPH alleles using informative SNPs located in exons 1, 2, 6, 10, 13, or 17 as markers.
resultsStatistically significant differences between the three different genotypes CC(-13910) GG(-22018), CT(-13910) GA(-22018), and TT(-13910) AA(-22018) and their respective L/S ratios were observed. Relative quantitation of the expressed LPH alleles showed that the persistent allele represented 92 (6)% (mean (SEM), range 78-99%; n=14) of the expressed LPH mRNA. The patient with the homozygous persistent TT(-13910) AA(-22018), as well as hypolactasic patients with CC(-13910) GG(-22018), showed equal expression of both alleles (47 (1)%; n=7).
conclusionsExpression of LPH mRNA in the intestinal mucosa in individuals with T(-13910) A(-22018) alleles is several times higher than that found in individuals with C(-13910), G(-22018) alleles. These findings suggest that the two SNPs, C/T(-13910) and G/A(-22018), associated with adult-type hypolactasia, are associated with the transcriptional regulation of the LPH gene. The presence of the T(-13910) A(-22018) allele also shows significant elevation of the L/S ratio.
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