Ionescu Tirgoviste, Constantin and Guja, Cristian and Herr, Mathias H. and Cucca, Francesco and Welsh, Kenneth Ian and Bunce, Michael and Marshall, Sara E. F. and Todd, John A. (2001) Low frequency of HLA DRB1*03 - DQB1*02 and DQB1*0302 haplotypes in Romania is consistent with the country's low incidence of Type I diabetes. Diabetologia, Vol. 44 (Suppl. 3), B60-B66. eISSN 1432-0428. Article.
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Aims/hypothesis. Our study aimed to determine the association of HLA class II HLA-DQB1 alleles with Type I (insulin-dependent) diabetes mellitus and the frequencies of these alleles in the Romanian population, which has one of the lowest incidences of Type I diabetes in children aged 0-14 years in Europe at 3-4 cases per 100 000 person-years. Methods. We used the sequence specific primer-polymerase chain reaction (PCR-SSP) technique to type HLA-DQB1 alleles, the HLA-DRB1 alleles DRB1*03 and one single nucleotide polymorphism (SNP) in the insulin gene (INS). We studied 204 Type I diabetic Romanian families, 196 of which were simplex with 70.3 % of subjects diagnosed under 14 years of age. Data was analysed using a modified version of the Transmission Disequilibrium Test, the Transmission Disequilibrium Test itself, and the affected family-based control method. Results. We found, as expected, the strong positive DQB1*02-DRB1*03 and DQB1*0302, and negative DQB1*0602, HLA class II allele associations with Type I diabetes in these Romanian families. However, using the affected family-based control method, we found relatively low population frequencies of DQB1*02-DRB1*03 and DQB1*0302 alleles in Romania (15.8%) compared with Sardinia (31.3%), a high incidence European region (35 cases per 100 000 person-years in children aged 0-14 years). The INS locus had a strong effect in this data set with 80.5 % transmission of the susceptible INS allele from parents to affected siblings (relative risk = 4.1). Conclusion/interpretation. Part of the explanation for the low incidence of Type I diabetes in Romania could be the lower frequency of the DRB1*03 - DQB1*02 and DQB1*0302 susceptibility haplotypes in this country.
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