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

C. Ionescu-Tîrgoviste; C. Guja; M. Herr; F. Cucca; K. Welsh; M. Bunce; S.E. Marshall; J.A. Todd

doi:10.1007/PL00002956

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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

Journal article

Peer reviewed

Low frequency of HLA DRB103 – DQB102 and DQB1*0302 haplotypes in Romania is consistent with the country's low incidence of Type I diabetes

C. Ionescu-Tîrgoviste, C. Guja, M. Herr, F. Cucca, K. Welsh, M. Bunce, S.E. Marshall and J.A. Todd

Diabetologia, Vol.44(S3), pp.B60-B66

2001

DOI: https://doi.org/10.1007/PL00002956

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Abstract

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. [Diabetologia (2001) 44 [Suppl 3]: B 60–B 66]

Details

Title: 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
Authors/Creators: C. Ionescu-Tîrgoviste (Author/Creator)
C. Guja (Author/Creator)
M. Herr (Author/Creator)
F. Cucca (Author/Creator)
K. Welsh (Author/Creator)
M. Bunce (Author/Creator)
S.E. Marshall (Author/Creator)
J.A. Todd (Author/Creator)
Publication Details: Diabetologia, Vol.44(S3), pp.B60-B66
Publisher: Springer-Verlag
Identifiers: 991005541959907891
Copyright: 2001 Springer-Verlag
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.26 Diabetes; 1.26.1016 Type 1 Diabetes
Web Of Science research areas: Endocrinology & Metabolism
ESI research areas: Clinical Medicine