{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T03:14:03Z","timestamp":1773285243601,"version":"3.50.1"},"reference-count":29,"publisher":"FapUNIFESP (SciELO)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Gastroenterol."],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:p>CONTEXT: Genotyping of single nucleotide polymorphism (SNP C\/T-13910) located upstream of the lactase gene is used to determine adult-type hypolactasia\/lactase persistence in North-European Caucasian subjects. The applicability of this polymorphism has been studied by comparing it with the standard diagnostic methods in different populations. OBJECTIVE: To compare the lactose hydrogen breath test with the genetic test in a sample of the Colombian Caribbean population. METHODS: Lactose hydrogen breath test and genotyping of SNP C\/T-13910 were applied to 128 healthy individuals (mean age 35 \u00b1 1). A positive lactose hydrogen breath test was indicative of hypolactasia. Genotyping was done using polymerase chain reaction\/restriction fragment length polymorphism. The kappa index was used to establish agreement between the two methods. RESULTS: Seventy-six subjects (59%) were lactose-maldigesters (hypolactasia) and 52 subjects (41%) were lactose-digesters (lactase persistence). The frequencies of the CC, CT and TT genotypes were 80%, 20% and 0%, respectively. Genotyping had 97% sensitivity and 46% specificity. The kappa index = 0.473 indicates moderate agreement between the genotyping of SNP C\/T-13910 and the lactose hydrogen breath test. CONCLUSION: The moderate agreement indicates that the genotyping of the SNP C\/T-13910 is not applicable to determine adult-type hypolactasia\/lactase persistence in the population participating in this study.<\/jats:p>","DOI":"10.1590\/s0004-28032012000100002","type":"journal-article","created":{"date-parts":[[2017,3,31]],"date-time":"2017-03-31T16:31:55Z","timestamp":1490977915000},"page":"5-8","source":"Crossref","is-referenced-by-count":11,"title":["Diagnosis of adult-type hypolactasia\/lactase persistence: genotyping of single nucleotide polymorphism (SNP C\/T-13910) is not consistent with breath test in Colombian Caribbean population"],"prefix":"10.1590","volume":"49","author":[{"given":"Evelyn","family":"Mendoza Torres","sequence":"first","affiliation":[{"name":"Universidad Libre Seccional Barranquilla, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes Luz","family":"Varela Prieto","sequence":"additional","affiliation":[{"name":"Universidad Libre Seccional Barranquilla, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Luis","family":"Villarreal Camacho","sequence":"additional","affiliation":[{"name":"Universidad Libre Seccional Barranquilla, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Antonio","family":"Villanueva Torregroza","sequence":"additional","affiliation":[{"name":"Universidad Libre Seccional Barranquilla, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"351","DOI":"10.3109\/00365528809093878","article-title":"Comparison of indirect diagnostic methods for hypolactasia","volume":"23","author":"Arola H","year":"1988","journal-title":"Scand J Gastroenterol","ISSN":"https:\/\/id.crossref.org\/issn\/0036-5521","issn-type":"print"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1086\/421051","article-title":"Genetic signatures of 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