M. Carrington et al., CYSTIC FIBROSIS-RELATED DIABETES IS ASSOCIATED WITH HLA DQB1 ALLELES ENCODING ASP-57(-) MOLECULES, Journal of clinical immunology, 14(6), 1994, pp. 353-358
The incidence of insulin-dependent diabetes in individuals with cystic
fibrosis is nearly 100 times greater than in the general population.
In the latter group, strong associations with specific HLA DQA1 and DQ
B1 alleles have been observed. To determine if a similar distribution
of alleles occurs in cystic fibrosis patients with diabetes, a cohort
of these individuals was typed for DQA1 and DQB1 alleles. HLA DQB1020
1 (Asp57(-)) was more frequent in diabetics compared to controls (40.4
vs 28%), while the frequency of alleles encoding Asp57(+) molecules w
as lower in diabetics relative to both the cystic fibrosis-only contro
ls (P = 0.025) and the general population (P = 0.008). The presence of
at least one protective DQA1-DQB1 heterodimer (i.e., Arg52(-) and Asp
57(+), respectively) in cis or trans was significantly lower in the di
abetics than in either of the control groups. Thus, the HLA alleles kn
own to be associated with insulin-dependent diabetes mellitus in the g
eneral population are also found in diabetics with cystic fibrosis.