{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:02:08Z","timestamp":1788314528038,"version":"build-2803163510"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:00:00Z","timestamp":1693353600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The \u221213910 C\/T single nucleotide polymorphism located within the MCM6 gene, an enhancer region located upstream of the lactase-phlorizin hydrolase gene, is associated with lactase persistence\/non-persistence traits among the Caucasian population. The performance of a new point-of-care CE-IVD (In Vitro Diagnostic) marked isothermal lab-on-phone lactose intolerance assay, using crude samples, was assessed in comparison with Sanger sequencing using purified DNA, as reference method.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The study was conducted following a non-probability sampling using direct buccal swab (n = 63) and capillary blood (n = 43) clinical samples from a total of 63 volunteers. A 3 \u00d7 3 confusion matrix\/contingency table was used to evaluate the performance of the isothermal lab-on-phone lactose intolerance assay.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The isothermal lab-on-phone lactose intolerance assay successfully detected the \u221213910 C\/T variant with a limit of detection of 5 cells\/assay and demonstrated an overall accuracy of 98.41% (95% CI, 91.47%\u201399.96%) for buccal swab samples and 100% (95% CI, 91.19%\u2013100%) for capillary blood, taking just 90 min from sample to result, with only 2 min hands-on.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The lab-on-phone pocket-sized assay displayed good performance when using direct buccal swab and capillary blood samples, enabling a low-cost, real-time, and accurate genotyping of the \u221213910 C\/T region for the rapid diagnosis of primary lactose intolerance at point-of-care, which enables a prompt implementation of appropriate diet habits and\/or intolerance therapies. To our knowledge, this is the first point-of-care genetic test for lactose intolerance to be made available on the market.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/jalm\/jfad052","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T20:17:18Z","timestamp":1693426638000},"page":"4-13","source":"Crossref","is-referenced-by-count":5,"title":["A Genetic Lab-on-Phone Test for Point-of-Care Diagnostic of Lactose Intolerance near Patient and in less than 90 Minutes"],"prefix":"10.1093","volume":"9","author":[{"given":"Mariana","family":"Concei\u00e7\u00e3o","sequence":"first","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Assun\u00e7\u00e3o","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gon\u00e7alo","family":"Doria","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Coelho","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Clemente","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9sar","family":"Gaspar","sequence":"additional","affiliation":[{"name":"VisionVolt Lda - R&D department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiago","family":"Furtado","sequence":"additional","affiliation":[{"name":"VisionVolt Lda - R&D department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takumi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"},{"name":"Department of Information Technology, Faculty of Engineering, Chiba University , Chiba City, Chiba Prefecture , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f3nio","family":"Santos","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Silva","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orfeu","family":"Flores","sequence":"additional","affiliation":[{"name":"STAB VIDA Lda - R&D Department , Caparica , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,8,30]]},"reference":[{"key":"2024010320201864800_jfad052-B1","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.nutres.2021.02.003","article-title":"Lactose intolerance: an update on its pathogenesis, diagnosis, and treatment","volume":"89","author":"Catanzaro","year":"2021","journal-title":"Nutr Res Elsevier"},{"key":"2024010320201864800_jfad052-B2","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1146\/annurev.genet.37.110801.143820","article-title":"Genetics of lactase persistence and lactose intolerance","volume":"37","author":"Swallow","year":"2003","journal-title":"Annu Rev Genet"},{"key":"2024010320201864800_jfad052-B3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3390\/nu12092689","article-title":"Genetics of lactose intolerance: an updated review and online interactive world maps of phenotype and genotype frequencies","volume":"12","author":"Anguita-Ruiz","year":"2020","journal-title":"Nutrients"},{"key":"2024010320201864800_jfad052-B4","first-page":"1","volume-title":"The evolution of lactose digestion. 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