Frequency of HLA-DQB1*0201/02 and DQB1*0302 alleles and tissue transglutaminase antibody seropositivity in children with type 1 diabetes mellitus.

BACKGROUND Patients with type 1 diabetes mellitus (T1DM) have an increased risk of celiac disease (CD). Both diseases have a common genetic susceptibility locus in the human leukocyte antigen (HLA) class II alleles. Testing for tissue transglutaminase antibodies (anti-tTG) is highly accurate for a CD diagnosis. OBJECTIVE To determine the frequency of HLA-DQB1*0201/02 and DQB1*0302 alleles and anti-tTG seropositivity in children with T1DM. METHOD Forty-six children with T1DM (male:female=24:22; mean age 12±3.7 years) without significant digestive symptoms were enrolled. The mean duration of diabetes was 5±3.5 years. Serum anti-tTG IgA and IgG as well as HLA-DQ2 (DQB1*0201/02) and -DQ8 (DQB1*0302) alleles were analyzed. The allele frequencies were compared with those in controls, which included 124 normal Thai individuals, as reported in our previous study. RESULTS All subjects were negative for anti-tTG IgG. Only one patient (2.2%) was positive for anti-tTG IgA (38.5 U/mL; cut-off 15 U/mL). Although this patient was also heterozygous for HLA-DQ2 and was asymptomatic for CD, he declined endoscopic confirmation. Twenty-nine of 46 patients carried HLA-DQ2 and/or -DQ8 heterodimers. HLA-DQB1*0201/02 and HLA-DQB1*0302 allele frequencies were significantly higher (27% and 14%) in T1DM patients compared with normal controls (13.3% and 7.3%; P<0.001 and P=0.002, respectively). CONCLUSIONS A significantly greater frequency of DQB1*0201/02 and DQB1*0302 alleles were present in children with T1DM compared with the control group. This indicates a potentially important role of these alleles in the development of T1DM. The prevalence of CD screening by serologic testing is negligible in Thai children with T1DM.