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Kerber, M; Oberkanins, C; Kriegshäuser, G; Kollerits, B; Dossenbach-Glaninger, A; Fuchs, D; Ledochowski, M.
Hydrogen breath testing versus LCT genotyping for the diagnosis of lactose intolerance: a matter of age?
Clin Chim Acta. 2007; 383(1-2): 91-96. Doi: 10.1016/j.cca.2007.04.028
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Co-authors Med Uni Graz
Kriegshäuser Gernot
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Abstract:
Two single nucleotide polymorphisms (-13910 C/T and -22018 G/A) upstream of the lactase gene (LCT) have been found to be associated with lactose tolerance in Europeans. In one hundred and twenty Austrian outpatients, who visited the physician's office for symptoms of irritable bowel syndrome (IBS), hydrogen breath testing (HBT) and LCT genotyping by polymerase chain reaction and reverse-hybridisation were performed in parallel. The coincidence between a genotype suggesting lactase non-persistence (lactose intolerance) and a positive HBT result was almost perfect (97.4% for LCT-13910 C/T and 100% for LCT-22018 G/A). Between a genotype indicating lactase persistence (lactose tolerance) and a negative HBT result the coincidence was lower (72% and 71.4%, respectively). Among heterozygotes, there was a statistically significant increase in the proportion of positive HBT results with age. Both SNPs were in accordance in 117/120 (97.5%) patients. Genetic analysis of LCT-13910 C/T and LCT-22018 G/A is a good indicator for the presence of lactose intolerance. Because age, as well as a number of secondary causes (e.g. celiac disease), can influence HBT results, it is useful to combine HBT and genetic analysis in the diagnostic assessment of IBS.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Adult -
Age Factors -
Aged -
Aged, 80 and over -
Aged, 80 and over -
Breath Tests - methods
Child -
Diagnostic Errors -
Female -
Genetic Testing - methods Genetic Testing - standards
Genotype -
Humans -
Hydrogen - analysis
Lactase - genetics
Lactose Intolerance - diagnosis
Male -
Middle Aged -
Polymorphism, Single Nucleotide -
Reproducibility of Results -

Find related publications in this database (Keywords)
adult-type hypolactasia
lactase-phlorizin hydrolase
genotyping
hydrogen breath test
irritable bowel syndrome
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