Correlation of G/A -22018 single-nucleotide polymorphism with lactase activity and its usefulness in improving the diagnosis of adult-type hypolactasia among North Indian children

Adult-type hypolactasia (AtH or lactase non-persistence) is the physiological decline in lactase activity that manifests in majority of the world’s population after weaning. Recently, various single-nucleotide polymorphisms (SNPs) upstream of lactase gene (LCT) have been suggested to be associated w...

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Bibliographic Details
Published in:Genes & nutrition 2013-01, Vol.8 (1), p.145-151
Main Authors: Kuchay, Raja A. H, Anwar, Mumtaz, Thapa, Babu R, Mahmood, Akhtar, Mahmood, Safrun
Format: Article
Language:English
Subjects:
alpha-glucosidase
beta-galactosidase
children
endoscopy
flatulence
genes
genotype
human population
milk
milk consumption
Research Paper
restriction fragment length polymorphism
sequence analysis
single nucleotide polymorphism
sucrose alpha-glucosidase
weaning
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Summary:Adult-type hypolactasia (AtH or lactase non-persistence) is the physiological decline in lactase activity that manifests in majority of the world’s population after weaning. Recently, various single-nucleotide polymorphisms (SNPs) upstream of lactase gene (LCT) have been suggested to be associated with AtH or the lactase persistent trait in different human populations. C/T -13910 SNP was found be completely associated with AtH in Finnish population, and G/A -22018 SNP was found to be strongly, but not completely, associated with AtH. The aim of this study was to correlate G/A -22018 SNP with intestinal lactase activity in North Indian children. These children were also genotyped for C/T -13910 SNP. We also examined the differences in milk consumption and milk-related clinical symptoms in children with different genotypes of G/A -22018 and C/T -13910 SNPs. Intestinal biopsies were obtained from 231 children aged 2–16 years undergoing routine endoscopy for various abdominal complaints. The biopsies were assayed for lactase, sucrase, and maltase activities and genotyped for G/A -22018 and C/T -13910 SNPs using restriction fragment length polymorphism and DNA sequencing analysis. There was a significant correlation between lactase activity and different genotypes of G/A -22018 SNP. Children with G/G -22018 genotype had low lactase activity. With a reference value of 
ISSN:1555-8932
1865-3499
DOI:10.1007/s12263-012-0305-7