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Lactase genetic polymorphisms and coeliac disease in children: a cohort study
Authors:Raja A H Kuchay  Babu R Thapa  Akhtar Mahmood  Mumtaz Anwar
Institution:1. Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research, Chandigarh, India,;2. Department of Biochemistry, Panjab University, Chandigarh, India, and;3. Division of Pediatric Gastroenterology, Hepatology and Nutrition, Postgraduate Institute of Medical Education and Research, Chandigarh, India;4. Department of Biochemistry, Panjab University, Chandigarh, India, and;5. Department of Experimental Medicine and Biotechnology, Postgraduate Institute of Medical Education and Research, Chandigarh, India,
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?p?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.
Keywords:Children  lactase polymorphism  saliva
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