Newborn screening for HLA markers associated with IDDM: Diabetes Autoimmunity Study in the Young (DAISY)
Open accessAbstract
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.
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Newborn screening can identify children at increased risk of developing type 1 diabetes.
“It is possible to screen newborn children to identify those at increased risk for developing type 1 diabetes (267-269).”
From Guidelines and recommendations for laboratory analysis in the diagnosis and management of diabetes mellitus (2011) · cites this paper as [268]
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- Authors
- Rewers, M., Bugawan, T. L., Norris, J. M., Blair, A., Beaty, B., Hoffman, M., McDuffie, R. S., Hamman, R. F., Klingensmith, G., Eisenbarth, G. S., & Erlich, H. A.
- Affiliations
- University of Colorado Anschutz (US)
- Kaiser Permanente (US)
- Venue
- Diabetologia
- Published
- 1996-07
- Volume
- 39
- Issue
- 7
- Pages
- 807-812
- ISSN
- 0012-186X (ISSN-L)
- 1432-0428
- OpenAlex
- W2071666782
- Cited by
- 422
- References
- 20
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 13 · 2023: 21 · 2022: 12 · 2021: 18 · 2020: 15 · 2019: 17 · 2018: 13 · 2017: 13 · 2016: 10 · 2015: 16 · 2014: 10 · 2013: 17 · 2012: 12
- FWCI
- 4.41
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Diabetologia (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Kaiser Permanente
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK32493, R0-1-DK, DK 32493, R01DK032493)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes Management and Research
- Keywords
- newborn screening, type 1 diabetes, HLA alleles, DRB1, HLA-DQB1, HLA-DRB1*03, HLA-DRB1*04, HLA-DQB1*0302, HLA-DR2, genetic susceptibility, umbilical cord blood, sequence-specific oligonucleotide probes, diabetes prevention, ethnic differences
- MeSH terms
- Autoimmune Diseases, Black or African American, Colorado, Diabetes Mellitus, Type 1, Fetal Blood, Follow-Up Studies, HLA Antigens, Humans, Infant, Newborn, Mass Screening, Patient Compliance, Prospective Studies, Quality Control, Risk Factors, Cohort Studies, Biomarkers, Incidence, Polymerase Chain Reaction, DNA Primers, Black People, White People, Asian People
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