Newborn screening for HLA markers associated with IDDM: diabetes autoimmunity study in the young (DAISY)

Diabetologia. 1996 Jul;39(7):807-12. doi: 10.1007/s001250050514.


Autoimmunity causing insulin-dependent diabetes mellitus (IDDM) begins in early childhood due to interactions between genes and unknown environmental factors that may be identified through follow-up of a large cohort of genetically susceptible children. Such a cohort has been established using a simple and rapid cord blood screening for HLA alleles. The DRB1 and DQB1 second exon sequences were co-amplified using the polymerase chain reaction and hybridized with single and pooled sequence-specific oligonucleotide probes. Four individual probes were used to detect the susceptibility alleles DRB1*03, DRB1*04, and DQB1*0302 as well as the usually protective DRB1*15/16 (DR2) alleles. In addition, pooled probes allow the distinction of DR3/3 from the DR3/x genotype (where x is neither DR2, 3, nor 4) and DR4/4 from DR4/x. Among 5000 newborns from the general Denver population, we have found the high-risk genotype (DRB1*03/ DRB1*04, DQB1*0302) to be present in 2.4% of non-Hispanic whites, 2.8% of Hispanics, and 1.6% of African Americans. The moderate-risk genotypes (DRB1*04, DQB1*0302/DRB1*04, DQB1*0302, DRB1*04, DQB1*0302/x, or DRB1*03/DRB1*03) are present in 17% of American non-Hispanic whites, 24% of Hispanics and in 10% of African Americans. These results demonstrate the feasibility of a large-scale newborn screening for genes associated with IDDM. The ultimate role for such a screening in future routine prediction and prevention of IDDM will depend on the availability of an effective and acceptable form of clinical intervention.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Asians
  • Autoimmune Diseases / epidemiology
  • Autoimmune Diseases / prevention & control*
  • Biomarkers / blood
  • Blacks
  • Cohort Studies
  • Colorado / epidemiology
  • DNA Primers / chemistry
  • Diabetes Mellitus, Type 1 / epidemiology
  • Diabetes Mellitus, Type 1 / prevention & control*
  • Fetal Blood / immunology
  • Follow-Up Studies
  • HLA Antigens / blood*
  • Humans
  • Incidence
  • Infant, Newborn
  • Mass Screening* / standards
  • Patient Compliance
  • Polymerase Chain Reaction
  • Prospective Studies
  • Quality Control
  • Risk Factors
  • Whites


  • Biomarkers
  • DNA Primers
  • HLA Antigens