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

J Tomczonek-Moruś1, A Wojtasik1, K Zeman1

  • 1Department of Paediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Łódź, Poland.

United European Gastroenterology Journal
|May 14, 2019
PubMed

Insights

Genetic testing for LCT gene polymorphisms can diagnose primary lactose intolerance in children over six years old. This method shows a significant correlation with hydrogen breath test results in this age group.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Primary lactose intolerance (PLI) involves a gradual decrease in lactase activity, typically emerging between ages 1-5 years.
  • PLI is genetically linked to specific single-nucleotide polymorphisms (SNPs) in the lactase (LCT) gene.

Purpose of the Study:

  • To evaluate the utility of genetic testing for LCT gene polymorphisms (13910C>T and 22018G>A) in diagnosing lactose intolerance in children.
  • To determine the correlation between LCT gene polymorphisms and hydrogen breath test (HBT) results in pediatric patients.

Main Methods:

  • A study involving 99 children (2 months to 16.5 years) with various digestive symptoms.
  • Hydrogen breath test (HBT) and blood sample collection for LCT polymorphism analysis were performed on all participants.
  • PLI was defined by the presence of 13910CC and/or 22018GG polymorphisms alongside a positive HBT result.

Main Results:

  • In children under 6 years, no significant correlation was found between LCT polymorphisms (13910CC and/or 22018GG) and HBT results.
  • A statistically significant correlation was observed in children older than 6 years between the 13910CC (p=0.0011) and 22018GG (p=0.003) LCT polymorphisms and HBT results.

Conclusions:

  • Genetic testing for LCT 13910C>T and 22018G>A polymorphisms can aid in diagnosing lactose intolerance in children over six years of age.
  • The diagnostic utility of these genetic markers is age-dependent, showing significance in older children but not in those under six.
Abstract

Keywords:
Hydrogen breath testLCT polymorphismhypolactasialactose intoleranceprimary lactose intolerance

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