Table 2—

Two strategies for identification of patients with a clinical diagnosis of type 1 diabetes for HNF-1α gene sequencing

Strategies and screening criteriaNumber fulfilling criteria (%)
HLA-based strategy (ref. 6)
 Type 1 diabetes474
 DRB1*03 and *04 negative26 (5.5)
Family history-based stepped strategy
 Type 1 diabetes474
 Affected parent67 (14.1)
 Affected parent and GAD antibody titer below 97.5th centile21 (4.4)
 Affected parent and GAD and IA-2 antibody titers below 97.5th centile7 (1.5)
  • Strategies are applied to 474 patients from the BOX study with full GAD and IA-2 antibody data and full HLA class II genotyping data. There are no significant differences in sex ratio or age at diagnosis between this group and the complete BOX study group. Strategy 1 is based on that used by Moller et al. (6). Strategy 2 is based on pedigree and autoantibody data.