ArticleArchives of disease in childhood1999
Is disomic homozygosity at the APECED locus the cause of increased autoimmunity in Down's syndrome?
Article in Archives of disease in childhood, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 37 citations in OpenAlex.
- Characteristics of type 1 diabetes mellitus in children and adolescents with Down's syndrome in an admixed population.Archives of endocrinology and metabolism · 2021Article
- Early Onset of Autoimmune Diabetes in Children with Down Syndrome-Two Separate Aetiologies or an Immune System Pre-Programmed for Autoimmunity?Current diabetes reports · 2020Review
- Early-onset, coexisting autoimmunity and decreased HLA-mediated susceptibility are the characteristics of diabetes in Down syndrome.Diabetes care · 2013Article
- Down syndrome, autoimmunity and T regulatory cells.Clinical and experimental immunology · 2012Article
- Diabetic ketoacidosis, thyroiditis and alopecia areata in a child with Down syndrome.Indian journal of pediatrics · 2009Article
- Increased prevalence of Down's syndrome in individuals with type 1 diabetes in Denmark: A nationwide population-based study.Diabetologia · 2006Article
- Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies.World journal of gastroenterology · 2006Article
- Fine mapping of a region on chromosome 21q21.11-q22.3 showing linkage to type 1 diabetes.Journal of medical genetics · 2005Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
aimsTo examine the age of onset of insulin dependent diabetes mellitus (IDDM) in children with Down's syndrome compared with non-trisomic individuals, and to assess whether differences might be related to disomic homozygosity at the autoimmune polyglandular disease type 1 (APECED) gene locus.
methodsChildren with Down's syndrome and IDDM were identified through the Down's syndrome association newsletter and from paediatricians. DNA was extracted from mouthbrush preparations provided by the parents and patients using standard techniques. Mapping techniques were then used to identify areas of reduction to homozygosity, including a marker that overlaps the locus for APECED. The frequency of disomic homozygosity for all markers (n = 18) was compared with a control group of 99 patients with Down's syndrome and their parents. The families also answered a questionnaire concerning diabetes and related autoimmune conditions in the family. Details were compared with the British Paediatric Surveillance Group 1988 diabetes study.
resultsChildren with Down's syndrome and IDDM were diagnosed significantly earlier than the general population (6.7 v 8.0 years) with a far higher proportion diagnosed in the first 2 years of life (22% v 7%). There was no evidence of increased disomic homozygosity in the region of the APECED locus in Down's syndrome patients with IDDM compared with simple Down's syndrome.
conclusionsThe natural history of IDDM in Down's syndrome is different from that of the general population. Although children with Down's syndrome have features similar to cases of APECED, disomic homozygosity in this region does not explain the predilection for autoimmune disease.
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