Diabetes Care, Vol 19, Issue 8 795-800, Copyright © 1996 by American Diabetes Association

ARTICLES

Rapid HLA-DQB1 genotyping for four alleles in the assessment of risk for IDDM in the Finnish population. The Childhood Diabetes in Finland (DiMe) Study Group

J Ilonen, H Reijonen, E Herva, M Sjoroos, A Iitia, T Lovgren, R Veijola, M Knip and HK Akerblom
Turku Immunology Center, University of Turku, Finland.

OBJECTIVE: To study the effectiveness of MHC genotyping in the assessment of risk for IDDM based on the identification of alleles that are significantly associated with risk for IDDM (DQB1 *0302 and *0201) and protection from it (DQB1 *0602/*0603 and *0301). RESEARCH DESIGN AND METHODS: A long series of 649 index cases of IDDM, together with their healthy siblings and 756 healthy blood donors, was collected in Finland. The samples were analyzed using a large-scale assay procedure that was developed for rapid screening purposes. The method utilizes time-resolved fluorometry to detect the hybridization of lanthanide-labeled allele-specific oligonucleotide probes with amplified gene product. RESULTS: A total of 61.9% of IDDM index cases had high risk (DQB1 *0201/*0302) or moderate risk (DQB1 *0302/x [x meaning DQB1 *0302 or a nondefined allele]) genotypes compared with 14.3% of the reference population. In patients and control subjects, the frequencies of low risk genotypes were 28.0 and 22.1%, respectively, and those of decreased risk genotypes, 10.0 and 63.6%. The relative risk of a *0201/*0302 genotype was 53.5 (31.1-92.8) compared with the decreased risk genotypes (63.6% of controls). The graded risk estimation was equally efficient in assessing the risk of IDDM in siblings of child with IDDM. CONCLUSION: The near-automatic typing procedure developed is attractive for large-scale screening projects, such as diabetes prevention and intervention trials.
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