| 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. | |
| | |
MedLine Citation:
|
PMID: 22763774 Owner: NLM Status: PubMed-not-MEDLINE |
Abstract/OtherAbstract:
|
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 <10 U/g protein (lactase activity) to be indicative of AtH, the sensitivity and specificity of genetic test based on G/A -22018 SNP was 94.4 and 94.1 %, respectively. Furthermore, the consumption of milk was lower in children with G/G -22018 genotype. Flatulence was the only symptom significantly more frequent among the children with G/G -22018 genotype compared to those with G/A and A/A -22018 genotypes. However, most of the children with G/G -22018 genotype seem to tolerate small amounts of milk without any significant difference in gastrointestinal symptoms from those with G/A and A/A -22018 genotypes. |
| | |
Authors:
|
Raja A H Kuchay; Mumtaz Anwar; Babu R Thapa; Akhtar Mahmood; Safrun Mahmood |
Related Documents
:
|
22916294 - Ethnic differences in cardiometabolic risk profile at age 5-6 years: the abcd study. 22521034 - Access, acceptability and utilization of community health workers using diagnostics for... 22761184 - The approach to children with recurrent infections. 22454774 - Parent and patient satisfaction after treatment for supracondylar humerus fractures in ... 20882944 - Repeatability of frequency of corrective foot pressure during balance control in childr... 12778044 - Developing health messages: qualitative studies with children, parents, and teachers he... |
Publication Detail:
|
Type: Journal Article Date: 2012-07-05 |
Journal Detail:
|
Title: Genes & nutrition Volume: 8 ISSN: 1555-8932 ISO Abbreviation: Genes Nutr Publication Date: 2013 Jan |
Date Detail:
|
Created Date: 2013-01-03 Completed Date: 2013-01-04 Revised Date: 2013-04-01 |
Medline Journal Info:
|
Nlm Unique ID: 101280108 Medline TA: Genes Nutr Country: Germany |
Other Details:
|
Languages: eng Pagination: 145-51 Citation Subset: - |
Affiliation:
|
Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Simultaneous quantification of metformin and glipizide in human plasma by high-performance liquid ch...
Next Document: Bromelain purification through unconventional aqueous two-phase system (PEG/ammonium sulphate).