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Lactase genetic polymorphisms and coeliac disease in children: a cohort study

Raja A H Kuchay1, Babu R Thapa, Akhtar Mahmood

  • 1Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research , Chandigarh , India .

Annals of Human Biology
|December 16, 2014
PubMed

Insights

This study found no significant link between coeliac disease (CD) and specific genetic markers for adult-type hypolactasia (AtH) in North Indian children. Children with certain AtH genotypes do not appear to have a higher risk of developing CD.

Area of Science:

  • Genetics and Gastroenterology
  • Pediatric Autoimmune Diseases
  • Human Population Studies

Background:

  • Adult-type hypolactasia (AtH) is common due to declining lactase activity in childhood.
  • Single nucleotide polymorphisms (SNPs) like C/T-13910 and G/A-22018 are linked to AtH.
  • Coeliac disease (CD) is an autoimmune disorder causing intestinal damage.

Purpose of the Study:

  • To investigate the association between coeliac disease (CD) and SNPs related to adult-type hypolactasia (AtH).
  • To analyze these associations in pediatric populations in North India.

Main Methods:

  • Collected intestinal biopsies and saliva samples from 52 children with CD and 102 controls.
  • Assayed disaccharidase activities in biopsies.
  • Genotyped samples for C/T-13910 and G/A-22018 SNPs.

Main Results:

  • The prevalence of AtH genotypes (C/C, G/G) was similar in both CD and control groups.
  • Children with CD exhibited lower lactase activity than controls, irrespective of AtH SNP genotypes.
  • In controls, lactase activity was higher in those with C/T + G/A genotypes compared to C/C + G/G genotypes.

Conclusions:

  • No significant correlation was found between AtH SNPs (C/T-13910, G/A-22018) and coeliac disease (CD).
  • Children with C/C or G/G AtH genotypes do not seem to be at increased risk for CD.
Abstract

Keywords:
Childrenlactase polymorphismsaliva

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