| Author/Editor | Petrone, A; Battelino, T; Kržišnik, C; Bugawan, T; Erlich, H; Di Mario, U; Pozzilli, P; Buzzetti, R | |
| Title | Similar incidence of type 1 diabetes in two ethnically different populations (Italy and Slovenia) is sustained by similar HLA susceptible/protective haplotype frequencies | |
| Type | članek | |
| Source | Tissue Antigens | |
| Vol. and No. | Letnik 60 | |
| Publication year | 2002 | |
| Volume | str. 244-53 | |
| Language | eng | |
| Abstract | The incidence of type 1 diabetes (T1DM) seems to depend in part on the population frequencies of susceptible and protective HLA haplotypes. The present study aimed to (i): characterize the genetic susceptibility to T1DM in the Slovenian population, (ii) test the general hypothesis that T1DM incidence is related to the frequencies of susceptible/ protective haplotypes, (iii) compare allele, haplotype and genotype frequencies in Slovenians and Italians that represent two white populations with a similar incidence of T1DM (7.9/100,000/year and 8.1/100,000/year, respectively). The haplotype found most frequently among Slovenian T1DM patients was DRBl*0301-DQAl*0501-DQBl*0201 (53%). The DR4- DQAl*0301-DQBl*0302 haplotypes conferring susceptibility to T1DM were those bearing DRBl*0401 (OR=12), DRBl*0404 (OR=4.7) and DRBl*0402 (OR=4.5). Negative associations with the disease were found for the following haplotypes: DRBl*1501-DQAl*0102-DQBl*0602, DRBi*1301-DQAl*0102-DQBl*0603, DRBl*1101/1104-DQAl*0501- DQBl*0301, and DRBl*1401-DQAl*0101-DQBl*0503. Our findings indicate that the low frequencies of susceptible genotypes, in particular, DR3- DQAl*0501-DQBl*0201/DR4-DQAl*0301-DQBl*0302, together with a high frequency of protective haplotypes, could in part explain the low incidence of T1DM in the Slovenian population. The combined frequencies of susceptible genotypes were similar in the two populations (Slovenia= 19.2%, Italy =17.6%), and the 95% confidence limits of the OR values for each genotype in the two populations overlapped, indicating no significant differences between the values. We conclude that the similar incidences of T1DM in Italian and Slovenian populations are in part a reflection of similar frequencies of HLA susceptible/protective haplotypes. | |
| Descriptors | DIABETES MELLITUS, INSULIN-DEPENDENT HLA-DR ANTIGENS HLA-DQ ANTIGENS ALLELES HALOTHANE GENOTYPE INCIDENCE ITALY SLOVENIA |