Introducing Genetic Testing for Adult-Type HypolactasiaBüning C.a · Genschel J.a · Jurga J.a · Fiedler T.a · Voderholzer W.a · Fiedler E.-M.b · Worm M.b · Weltrich R.a · Lochs H.a · Schmidt H.a · Ockenga J.a
aDepartment of Gastroenterology, Hepatology and Endocrinology, bDepartment of Dermatology and Allergy, Charité, Campus Mitte, Humboldt University of Berlin, Berlin, Germany
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Article / Publication Details
Background and Aims: To evaluate genotyping for two DNA variants (c.1993+327C>T and c.1438+117G>A), recently found to be associated with adult-type hypolactasia, in the diagnosis of lactose intolerance. Methods: In total, 166 consecutive patients with gastrointestinal symptoms mimicking hypolactasia admitted to the clinic between March 2002 and December 2002 were included. Genotyping for the two DNA variants (c.1993+327C>T and c.1438+117G>A) and standard H2 breath test was performed. Results: Among 116 patients with positive H2 breath test, the c.1993+327C variantwas detectablein 106 (91.4%) patients. Among 50 patients with negative H2 breath test, the c.1993+327Cvariantwas seen in 2 patients. Sensitivity, specificity, positive and negative predictive values for the c.1993+327C variant were 91.4, 96.0, 98.1 and 82.8%, respectively. Genotyping for the c.1438+117G variant did not bring any additional information. Among 4 of the 10 patients with positive H2 breath test but negative for the c.1993+327C and the c.1438+117G variant,further evaluation revealed other diseases known to cause secondary hypolactasia such as celiac disease and short bowel syndrome. Conclusion: In symptomatic patients, genotyping for the DNA variant c.1993+327C is a reliable test for adult-type hypolactasia with high sensitivity and specificity and thus provides a new tool in the diagnostic workup of hypolactasia.
© 2005 S. Karger AG, Basel
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