Open Access13910C>T and 22018G>A LCT gene polymorphisms in diagnosing hypolactasia in children
Author(s) -
Tomczonek-Moruś J,
Wojtasik A,
Zeman K,
Smolarz B,
Bąk-Romaniszyn L
Publication year - 2019
Publication title -
ueg journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.667
H-Index - 35
eISSN - 2050-6414
pISSN - 2050-6406
DOI - 10.1177/2050640618814136
Subject(s) - hydrogen breath test , lactose intolerance , medicine , gastroenterology , lactase , lactose , single nucleotide polymorphism , polymorphism (computer science) , genotype , gene , genetics , breath test , food science , biology , helicobacter pylori
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.