{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:07:07Z","timestamp":1791900427432,"version":"4.3.4"},"reference-count":13,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Digestion"],"published-print":{"date-parts":[[2005]]},"abstract":"<jats:p>Background and Aims: To evaluate genotyping for two DNA variants (c.1993+327C&gt;T and c.1438+117G&gt;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&gt;T and c.1438+117G&gt;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.<\/jats:p>","DOI":"10.1159\/000087050","type":"journal-article","created":{"date-parts":[[2005,7,14]],"date-time":"2005-07-14T13:49:03Z","timestamp":1121348943000},"page":"245-250","source":"Crossref","is-referenced-by-count":30,"title":["Introducing Genetic Testing for Adult-Type Hypolactasia"],"prefix":"10.1159","volume":"71","author":[{"given":"Carsten","family":"B\u00fcning","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Genschel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Jurga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Fiedler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winfried","family":"Voderholzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva-Maria","family":"Fiedler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margitta","family":"Worm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renita","family":"Weltrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert","family":"Lochs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann","family":"Ockenga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2005,8,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3109%2F00365529409091740"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2802%2909712-X"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1651-2227.1972.tb15897.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2FS0016-5085%2898%2970429-9"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3109%2F00365529409091743"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038%2Fng826"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3810%2Fpgm.1998.09.577"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM199507063330101"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1469-1809.2003.00048.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00282305"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM197512112932405"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3109%2F00365529409091742"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1136%2Fgut.2004.040048"}],"container-title":["Digestion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/dig\/article-pdf\/71\/4\/245\/4033029\/000087050.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/dig\/article-pdf\/71\/4\/245\/4033029\/000087050.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:18:11Z","timestamp":1745464691000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000087050"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":13,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2005,8,1]]},"published-print":{"date-parts":[[2005,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000087050","archive":["Portico"],"relation":{},"ISSN":["0012-2823","1421-9867"],"issn-type":[{"value":"0012-2823","type":"print"},{"value":"1421-9867","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005]]}}}