Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Högenauer, C; Hammer, HF; Mellitzer, K; Renner, W; Krejs, GJ; Toplak, H.
Evaluation of a new DNA test compared with the lactose hydrogen breath test for the diagnosis of lactase non-persistence.
Eur J Gastroenterol Hepatol. 2005; 17(3):371-376
Doi: 10.1097/00042737-200503000-00018
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- Führende Autor*innen der Med Uni Graz
- Hoegenauer Christoph
- Co-Autor*innen der Med Uni Graz
- Hammer Heinz
- Krejs Günter Josef
- Mellitzer Karin
- Renner Wilfried
- Toplak Hermann
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- Abstract:
- Background and aims Recent publications have found that the CC genotype of the DNA variant - 13910 T/C upstream of the LCT gene is associated with lactase non-persistence. We therefore compared the value of DNA testing for this variant (DNA test) with the lactose hydrogen breath test (H-2 test), which is the clinical standard for the diagnosis of lactase non-persistence. Patients and methods One hundred and twenty-three consecutive patients with suspected lactose malabsorption were tested for the presence of the - 13910 T/C variant by polymerase chain reaction-restriction fragment length polymorphism analysis. These patients also underwent the H-2 test after ingestion of 50g lactose. Results Thirty-seven subjects had a CC genotype of the - 13910 T > C polymorphism suggesting lactase non-persistence; 36 (97%) had also a positive H-2 test. Eighty-six subjects had either a TC or a TT genotype Suggestive of lactase persistence. Seventy-four (86%) of these tested negative on the H-2 test, while 12 patients had a positive H-2 test. In eight of these 12 patients duodenal biopsies showed no evidence of small bowel disease. One patient carrying a CC genotype had a negative H-2 test. In this patient the rise in serum glucose after oral lactose was normal, furthermore H-2 non-excretion was also excluded. Conclusions An excellent correlation is observed between a CC genotype and a positive H-2 test, whereas the correlation between a TC or TT genotype and a negative H-2 test result is less strong. Analysis of the - 13910 T/C variant can be considered a good test for predicting the presence of lactase non-persistence in a patient population with suspected lactose malabsorption. (c) 2005 Lippincott Williams C Wilkins.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Aged -
- Blood Glucose - analysis
- Breath Tests - methods
- DNA - analysis
- Female -
- Genotype -
- Humans -
- Hydrogen -
- Lactase - deficiency Lactase - genetics
- Lactose - metabolism
- Lactose Intolerance - diagnosis Lactose Intolerance - genetics Lactose Intolerance - metabolism
- Lactose Tolerance Test -
- Male -
- Middle Aged -
- Polymorphism, Single Nucleotide -
- Find related publications in this database (Keywords)
- lactase non-persistence
- lactose intolerance
- lactose malabsorption
- malabsorption syndromes
- genotype
- diarrhea