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13910C>T and 22018G>A LCT gene polymorphisms in diagnosing hypolactasia in children

United European gastroenterology journal, 2019-03, Vol.7 (2), p.210-216 [Peer Reviewed Journal]

Author(s) 2018 ;2019 The Authors. UEG Journal published by Wiley Periodicals LLC. on behalf of United European Gastroenterology ;Author(s) 2018 2018 United European Gastroenterology ;ISSN: 2050-6406 ;EISSN: 2050-6414 ;DOI: 10.1177/2050640618814136 ;PMID: 31080605

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  • Title:
    13910C>T and 22018G>A LCT gene polymorphisms in diagnosing hypolactasia in children
  • Author: Tomczonek-Moruś, J ; Wojtasik, A ; Zeman, K ; Smolarz, B ; Bąk-Romaniszyn, L
  • Subjects: Adolescent ; Alleles ; Child ; Child, Preschool ; Genetic Testing ; Genotype ; Humans ; Hydrogen breath test ; hypolactasia ; Infant ; Lactase - genetics ; lactose intolerance ; Lactose Intolerance - diagnosis ; Lactose Intolerance - genetics ; LCT polymorphism ; Original ; Polymorphism, Single Nucleotide ; primary lactose intolerance
  • Is Part Of: United European gastroenterology journal, 2019-03, Vol.7 (2), p.210-216
  • Description: Background Primary lactose intolerance (PLI) is a gradual decrease of lactase activity that usually manifests at the age of 1–5 years. It has been proved that PLI is related to a single-nucleotide polymorphism of the lactase (LCT) gene. Objective An evaluation was performed on the usefulness of genetic tests in detecting LCT 13910C>T and 22018G>A polymorphisms in diagnosing lactose intolerance in children. Methods The study group included 99 children aged from 2 months to 16.5 years with different digestive tract symptoms. In all patients a hydrogen breath test (HBT) was conducted and blood samples were collected to determine LCT polymorphisms. PLI was defined as the presence of the 13910CC and/or 22018GG polymorphism in patients with a positive HBT result. Results In the group younger than 6 years, no statistically significant correlation was observed between the 13910CC and/or 22018GG LCT polymorphisms and HBT result. In the group of children older than 6, a statistically significant correlation between the 13910CC (p = 0.0011) and 22018GG (p = 0.003) LCT polymorphisms and HBT result was detected. Conclusions In children older than 6, the result of genetic testing based on LCT 13910C>T and 22018G>A polymorphisms may diagnose lactose intolerance.
  • Publisher: London, England: SAGE Publications
  • Language: English
  • Identifier: ISSN: 2050-6406
    EISSN: 2050-6414
    DOI: 10.1177/2050640618814136
    PMID: 31080605
  • Source: Open Access: PubMed Central
    Journals@Ovid Open Access Journal Collection Rolling
    MEDLINE
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