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

Abstract

Background: Lactase activity declines during childhood in the majority of human populations leading to adult-type hypolactasia (AtH). C/T-13910 and G/A-22018 single nucleotide polymorphisms (SNPs) have been suggested to be associated with AtH in different human populations. Coeliac disease (CD) is an autoimmune condition characterized by damage to intestinal cells leading to ultimate deterioration.

Aim: This study investigated the association between coeliac disease (CD) and SNPs leading to AtH in children from North India.

Subjects and methods: Intestinal biopsies and saliva samples were obtained from 52 children with CD diagnosis and 102 control subjects. Biopsies were assayed for disaccharidase activities and samples were genotyped for given SNPs.

Results: Prevalence of C/C and G/G genotypes of AtH was almost equal in the CD and control group. The CD group had low lactase activity compared to the control group, irrespective of genotype at C/T -13910 and G/A -22018 SNPs (p < 0.05). For the control group, lactase activity was high in children with C/T + G/A genotypes compared to C/C + G/G (p < 0.05).

Conclusion: There appears to be no significant correlation between C/T -13910 or G/A -22018 SNPs of AtH and CD. Children with C/C or G/G genotype of AtH may not be at greater risk of CD.

• Children
• lactase polymorphism
• saliva

Acknowledgements

We thank the children and their parents for participating in this study. We acknowledge Dr. Sadhna Lal, Navdeep, Dr Nissar Wani, Neha Nanda, Reyhan and the research faculty and supporting staff of the Gastroenterology Department (PGIMER, Chandigarh) for helping in analysis and the collection of samples. We are thankful to reviewer(s) for their valuable suggestions. The laboratory of Dr Safrun Mahmood was supported by the Department of Biotechnology (DBT), New Delhi, India. Raja Amir was supported by a Junior Research Fellowship, from the University Grants Commission, New Delhi, India.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.