Cited by 790Diabetes and associated disordersGenetic Associations and EpidemiologyMultiple Sclerosis Research Studies

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HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk

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Erlich, Henry, Valdes, Ana Maria, Noble, Janelle, Carlson, Joyce A., Varney, Mike, Concannon, Pat, Mychaleckyj, Josyf C., Todd, John A., Bonella, Persia, Fear, Anna Lisa, Lavant, Eva, Louey, Anthony, Moonsamy, Priscilla, for the Type 1 Diabetes Genetics Consortium·2008·Diabetes

DOI 10.2337/db07-1331PMC PMC4103420

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Abstract

OBJECTIVE—The Type 1 Diabetes Genetics Consortium has collected type 1 diabetic families worldwide for genetic analysis. The major genetic determinants of type 1 diabetes are alleles at the HLA-DRB1 and DQB1 loci, with both susceptible and protective DR-DQ haplotypes present in all human populations. The aim of this study is to estimate the risk conferred by specific DR-DQ haplotypes and genotypes. RESEARCH DESIGN AND METHODS:—Six hundred and seven Caucasian families and 38 Asian families were typed at high resolution for the DRB1, DQA1, and DQB1 loci. The association analysis was performed by comparing the frequency of DR-DQ haplotypes among the chromosomes transmitted to an affected child with the frequency of chromosomes not transmitted to any affected child. RESULTS—A number of susceptible, neutral, and protective DR-DQ haplotypes have been identified, and a statistically significant hierarchy of type 1 diabetes risk has been established. The most susceptible haplotypes are the DRB1*0301-DQA1*0501-DQB1*0201 (odds ratio [OR] 3.64) and the DRB1*0405-DQA1*0301-DQB1*0302, DRB1*0401-DQA1*0301-DQB*0302, and DRB1*0402-DQA1*0301-DQB1*0302 haplotypes (ORs 11.37, 8.39, and 3.63), followed by the DRB1*0404-DQA1*0301-DQB1*0302 (OR 1.59) and the DRB1*0801-DQB1*0401-DQB1*0402 (OR 1.25) haplotypes. The most protective haplotypes are DRB1*1501-DQA1*0102-DQB1*0602 (OR 0.03), DRB1*1401-DQA1*0101-DQB1*0503 (OR 0.02), and DRB1*0701-DQA1*0201-DQB1*0303 (OR 0.02). CONCLUSIONS—Specific combinations of alleles at the DRB1, DQA1, and DQB1 loci determine the extent of haplotypic risk. The comparison of closely related DR-DQ haplotype pairs with different type 1 diabetes risks allowed identification of specific amino acid positions critical in determining disease susceptibility. These data also indicate that the risk associated with specific HLA haplotypes can be influenced by the genotype context and that the trans-complementing heterodimer encoded by DQA1*0501 and DQB1*0302 confers very high risk.

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“Genotyping of some T1DM patients reveals that 90% have HLA-DR3-DQ2 and DR4-DQ8 haplotypes, known as primary T1DM risk factors [32,33].”

Authors: Erlich, H., Valdes, A. M., Noble, J., Carlson, J. A., Varney, M., Concannon, P., Mychaleckyj, J. C., Todd, J. A., Bonella, P., Fear, A. L., Lavant, E., Louey, A., Moonsamy, P., & for the Type 1 Diabetes Genetics Consortium
Affiliations: Roche Molecular Systems, Alameda, California
Children's Hospital Oakland Research Institute, Oakland, California
Skåne University Hospital (SE)
Australian Red Cross Lifeblood (AU)
Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia
University of Virginia (US)
University of Cambridge (GB)
ORCID: Valdes, Ana Maria
Noble, Janelle
Mychaleckyj, Josyf C.
Todd, John A.
Venue: Diabetes
Publisher: American Diabetes Association
Published: 2008-04-01
Volume: 57
Issue: 4
Pages: 1084-1092
ISSN: 0012-1797 (ISSN-L)
1939-327X
DOI: 10.2337/db07-1331
PMC: PMC4103420
OpenAlex: W2157754662
Cited by: 790
References: 0
Citations by year: 2026: 31 · 2025: 43 · 2024: 56 · 2023: 46 · 2022: 41 · 2021: 54 · 2020: 58 · 2019: 48 · 2018: 33 · 2017: 41 · 2016: 40 · 2015: 38 · 2014: 39 · 2013: 46 · 2012: 34
FWCI: 27.04
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Diabetes (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Lund University Publications (Lund University) (submittedVersion)
Funders: Wellcome Trust
National Institute of Diabetes and Digestive and Kidney Diseases (R01DK061722, U01DK062418)
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 › Clinical Neurology › Multiple Sclerosis Research Studies
Keywords: type 1 diabetes, HLA-DRB1, HLA-DQA1, HLA-DQB1, genetic susceptibility, protective haplotypes, family-based association, high-resolution HLA typing
MeSH terms: Child, Child, Preschool, Diabetes Mellitus, Type 1, Family, Female, Genotype, HLA-DQ Antigens, HLA-DR Antigens, Humans, Male, Risk Factors, Age of Onset, Genetic Predisposition to Disease, White People, Asian People, HLA-DRB1 Chains, HLA-DQ alpha-Chains, HLA-DQ beta-Chains

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HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk

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