This HTML5 document contains 25 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Subject Item

n2:w

rdf:type

rdac:C10001 bibo:Article

dcterms:isPartOf

n7:w

dcterms:subject

n8:insulindependentdiabetesmellitus n9:immunologyincludingallergy n9:childhealth n12:originalarticle n8:autoimmunepolyglandulardiseasetype1locus n9:diabetes n9:metabolicdisorders n9:drugscnsnotpsychiatric n8:downssyndrome

dcterms:title

Is disomic homozygosity at the APECED locus the cause of increased autoimmunity in Down’s syndrome?

rdaw:P10072

n11:web n11:print

vivo:relatedBy

n4:5 n4:2 n4:1 n4:4 n4:3

dcterms:abstract

AIMS. To 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. METHODS. Children 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. RESULTS. Children 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. CONCLUSIONS. The 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.

hub:articleType

n15:researcharticle

hub:publisher-id

9920

hub:isPartOfThisJournal

n16:w

bibo:pmid

10490523