{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T23:20:25Z","timestamp":1781738425821,"version":"3.54.5"},"reference-count":50,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Genetic testing is a good predictor of lactase persistence (LP) in specific populations but its clinical utility in children is less clear. We assessed the role of lactose malabsorption in functional gastrointestinal disorders (FGID) in children and the correlation between the lactase non-persistence (LNP) genotype and phenotype, based on exhaled hydrogen and gastrointestinal symptoms, during a hydrogen breath test (HBT). We also evaluate dairy consumption in this sample. We conducted a 10-year cross-sectional study in a cohort of 493 children with suspected FGID defined by Roma IV criteria. Distribution of the C\/T-13910 genotype was as follows: CC, 46.0%; TT, 14.4% (LP allele frequency, 34.1%). The phenotype frequencies of lactose malabsorption and intolerance were 36.3% and 41.5%, respectively. We observed a strong correlation between genotype and both lactose malabsorption (Cram\u00e9r\u2019s V, 0.28) and intolerance (Cram\u00e9r\u2019s V, 0.54). The frequency of the LNP genotype (p = 0.002) and of malabsorption and intolerance increased with age (p = 0.001 and 0.002, respectively). In 61% of children, evaluated dairy consumption was less than recommended. No association was observed between dairy intake and diagnosis. In conclusion, we found a significant correlation between genotype and phenotype, greater in older children, suggesting that the clinical value of genetic testing increases with age.<\/jats:p>","DOI":"10.3390\/nu12103017","type":"journal-article","created":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T11:28:57Z","timestamp":1601551737000},"page":"3017","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4861-9905","authenticated-orcid":false,"given":"Mar\u00eda L.","family":"Couce","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15704 Santiago de Compostela, Spain"},{"name":"CIBERER, Instituto Salud Carlos III, 28029 Madrid, Spain"},{"name":"Department of Pediatrics, Universidad de Santiago de Compostela, 15704 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"S\u00e1nchez-Pintos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15704 Santiago de Compostela, Spain"},{"name":"CIBERER, Instituto Salud Carlos III, 28029 Madrid, Spain"},{"name":"Department of Pediatrics, Universidad de Santiago de Compostela, 15704 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emiliano","family":"Gonz\u00e1lez-Vioque","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15704 Santiago de Compostela, Spain"},{"name":"CIBERER, Instituto Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0540-4210","authenticated-orcid":false,"given":"Rosaura","family":"Leis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15704 Santiago de Compostela, Spain"},{"name":"Department of Pediatrics, Universidad de Santiago de Compostela, 15704 Santiago de Compostela, Spain"},{"name":"CIBEROBN, Instituto Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.1136\/gut.2005.077404","article-title":"Transcriptional downregulation of the lactase (LCT) gene during childhood","volume":"54","author":"Kuokkanen","year":"2005","journal-title":"Gut"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2080","DOI":"10.1136\/gutjnl-2019-318404","article-title":"Update on lactose malabsorption and intolerance: Pathogenesis, diagnosis and clinical management","volume":"68","author":"Misselwitz","year":"2019","journal-title":"Gut"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/BF02235991","article-title":"Primary adult lactose intolerance and the milking habit: A problem in biological and cultural interrelations. 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