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Increased Frequency of the HLA-DRB104:04-DQA103-DQB103:02 Haplotype Among HLA-DQB106:02-Positive Children With

Jorma Ilonen¹, Minna Kiviniemi¹, Mostafa I El-Amir^1,2

¹Immunogenetics Laboratory, Institute of Biomedicine, University of Turku, Turku, Finland.

|November 7, 2023

Insights

The DQB1*06:02-positive haplotype, rare in type 1 diabetes (T1D) cases, is associated with specific HLA class II haplotypes. This suggests a complex genetic interplay in T1D susceptibility beyond common risk factors.

Area of Science:

Immunogenetics
Endocrinology
Pediatrics

Background:

Human Leukocyte Antigen (HLA) class II haplotypes are key genetic determinants of type 1 diabetes (T1D) susceptibility.
The DQB1*06:02-positive haplotype (DR15-DQ602), prevalent in European ancestry, is notably infrequent in T1D pediatric cases.

Purpose of the Study:

To investigate the genetic associations of the rare DQB1*06:02-positive haplotype in children with T1D.
To identify other HLA class II haplotypes that co-occur with DQB1*06:02 in T1D patients.

Main Methods:

Analysis of the Finnish Pediatric Diabetes Register data from 4,490 children with T1D.
Comparison of HLA-DR/DQ haplotype frequencies between DQB1*06:02-positive and -negative T1D cases and control participants.
Statistical analysis (chi-squared test) to determine significant differences in haplotype prevalence.

Main Results:

Only 1.3% of T1D children carried the DQB1*06:02 haplotype, contrasting with 26.1% in controls.
The DRB1*04:04-DQA1*03-DQB1*03:02 haplotype was significantly more frequent in DQB1*06:02-positive T1D cases (47.4%) compared to DQB1*06:02-negative cases (18.0%).
Other common risk haplotypes were less prevalent in DQB1*06:02-positive T1D children, and HLA-B allele frequencies showed no significant differences.

Conclusions:

The DQB1*06:02-positive haplotype is rare in Finnish children with T1D and is associated with distinct HLA class II haplotype profiles.
The increased frequency of DRB1*04:04 in DQB1*06:02-positive T1D cases may suggest a role in presenting specific islet autoantigen epitopes.

Read full analysis

Abstract:

HLA-DR/DQ haplotypes largely define genetic susceptibility to type 1 diabetes (T1D). The DQB1*06:02-positive haplotype (DR15-DQ602) common in individuals of European ancestry is very rare among children with T1D. Among 4,490 children with T1D in the Finnish Pediatric Diabetes Register, 57 (1.3%) case patients with DQB1*06:02 were identified, in comparison with 26.1% of affected family-based association control participants. There were no differences between DQB1*06:02-positive and -negative children with T1D regarding sex, age, islet autoantibody distribution, or autoantibody levels, but significant differences were seen in the frequency of second class II HLA haplotypes. The most prevalent haplotype present with DQB1*06:02 was DRB1*04:04-DQA1*03-DQB1*03:02, which was found in 27 (47.4%) of 57 children, compared with only 797 (18.0%) of 4,433 among DQB1*06:02-negative case patients (P < 0.001 by χ2 test). The other common risk-associated haplotypes, DRB1*04:01-DQA1*03-DQB1*03:02 and (DR3)-DQA1*05-DQB1*02, were less prevalent in DQB1*06:02-positive versus DQB1*06:02-negative children (P < 0.001). HLA-B allele frequencies did not differ by DQB1*06:02 haplotype between children with T1D and control participants or by DRB1*04:04-DQA1*03-DQB1*03:02 haplotype between DQB1*06:02-positive and -negative children with T1D. The increased frequency of the DRB1*04:04 allele among DQB1*06:02-positive case patients may indicate a preferential ability of the DR404 molecule to present islet antigen epitopes despite competition by DQ602.

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