title: 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.
  
  
  OBJECTIVE
  This study investigated the association between coeliac disease (CD) and SNPs leading to AtH in children from North India.
  
  
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research , Chandigarh , India .
authors.forename: Raja A H
authors.initials: RA
authors.lastname: Kuchay
authors.forename: Babu R
authors.initials: BR
authors.lastname: Thapa
authors.forename: Akhtar
authors.initials: A
authors.lastname: Mahmood
authors.forename: Mumtaz
authors.initials: M
authors.lastname: Anwar
authors.forename: Safrun
authors.initials: S
authors.lastname: Mahmood
mesh_terms: D002446:Celiac Disease / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D043322:Lactase / Q000172:deficiency* / Q000235:genetics*; D007787:Lactose Intolerance / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D043322:Lactase
keywords: Children; lactase polymorphism; saliva