The DOI matches its Crossref record.
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 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.
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“The prevalence of genotypes predisposing to adult-onset primary hypolactasia in CD patients is comparable to the rate within the general population (62, 63).”
From ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease. (2022) · cites this paper as [63]
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Cited by
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ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease.
Mearin, M. L., Agardh, D., Antunes, H., Al‐toma, A., Auricchio, R., Castillejo, G., Catassi, C., Ciacci, C., Discepolo, V., Dolinsek, J., et al. (2022) · Journal of pediatric gastroenterology and nutrition · doi:10.1097/mpg.0000000000003540 · Cited by 186
Metadata
- Authors
- Kuchay, R. A. H., Thapa, B. R., Mahmood, A., Anwar, M., & Mahmood, S.
- Affiliations
- Post Graduate Institute of Medical Education and Research (IN)
- Panjab University (IN)
- Corresponding author
- Mahmood, Safrun
- Venue
- Annals of Human Biology
- Publisher
- Informa UK Limited
- Published
- 2014-08-13
- Volume
- 42
- Issue
- 1
- Pages
- 101-104
- ISSN
- 0301-4460 (ISSN-L)
- 1464-5033
- OpenAlex
- W2020106804
- Cited by
- 8
- References
- 0
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 1 · 2019: 1 · 2018: 1
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Human Biology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Postgraduate Institute of Medical Education and Research, Chandigarh
- Department of Biotechnology, Ministry of Science and Technology, India
- Topics
- Health Sciences › Medicine › Gastroenterology › Digestive system and related health
- Health Sciences › Medicine › Gastroenterology › Celiac Disease Research and Management
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- celiac disease, adult-type hypolactasia, single nucleotide polymorphisms, lactase activity, disaccharidase activity, children, North India
- MeSH terms
- Celiac Disease, Child, Child, Preschool, Genotype, Humans, India, Lactose Intolerance, Cohort Studies, Polymorphism, Single Nucleotide, Lactase
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