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A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases

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Islet autoimmunity in children with Down's syndrome.

Kathleen M Gillespie¹, Rachel J Dix, Alistair J K Williams

¹Medical School Unit, Southmead Hospital, Bristol BS10 5NB, UK. k.m.gillespie@bristol.ac.uk

|October 27, 2006

Summary

Children with Down syndrome (DS) have increased islet autoantibodies, indicating subclinical autoimmunity. Human Leukocyte Antigen (HLA) class II genes partially explain type 1 diabetes (T1D) susceptibility in DS, with other factors possibly involved.

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Area of Science:

Immunogenetics
Endocrinology
Pediatrics

Background:

Down syndrome (DS) is associated with an unexplained excess of organ-specific autoimmune diseases, including type 1 diabetes (T1D).
The immunogenetic factors contributing to T1D in individuals with DS remain largely uninvestigated.

Purpose of the Study:

To investigate the frequency of islet autoantibodies and analyze Human Leukocyte Antigen (HLA) class II genotypes in children with Down syndrome.
To understand the immunogenetic basis of type 1 diabetes susceptibility in the Down syndrome population.

Main Methods:

Studied islet autoantibody frequency in 106 non-autoimmune children with DS.
Analyzed HLA class II genotypes in 222 children with DS, 40 with DS and T1D, 120 age/sex-matched T1D controls, and 621 healthy controls.

Main Results:

Subclinical islet autoimmunity (≥2 autoantibodies) was significantly higher in non-diabetic children with DS (6/106) compared to healthy children (13/2,860).
Children with DS and T1D showed an excess of diabetes-associated HLA class II genotypes compared to healthy controls.
DS children with T1D were less likely to carry the high-risk DR4-DQ8/DR3-DQ2 genotype but more likely to carry low-risk genotypes compared to general T1D population.

Conclusions:

The frequency of subclinical islet autoimmunity is elevated in Down syndrome.
HLA class II genes partially mediate T1D susceptibility in Down syndrome.
Additional factors, potentially involving genes on chromosome 21, may influence T1D penetrance in Down syndrome.