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Cited by 223Systemic Lupus Erythematosus ResearchGenetic Associations and EpidemiologyMultiple Sclerosis Research Studies

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Visualizing Human Leukocyte Antigen Class II Risk Haplotypes in Human Systemic Lupus Erythematosus

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Graham, Robert R., Ortmann, Ward A., Langefeld, Carl D., Jawaheer, Damini, Selby, Scott A., Rodine, Peter R., Baechler, Emily C., Rohlf, Kristine E., Shark, Katherine B., Espe, Karl J., Green, Linda E., Nair, Rajan P., Stuart, Philip E., Elder, James T., King, Richard A., Moser, Kathy L., Gaffney, Patrick M., Bugawan, Teodorica L., Erlich, Henry A., Rich, Stephen S., Gregersen, Peter K., Behrens, Timothy W.·2002·The American Journal of Human Genetics
DOI 10.1086/342290PMC PMC379191
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Abstract

Human leukocyte antigen (HLA) class I and class II alleles are implicated as genetic risk factors for many autoimmune diseases. However, the role of the HLA loci in human systemic lupus erythematosus (SLE) remains unclear. Using a dense map of polymorphic microsatellites across the HLA region in a large collection of families with SLE, we identified three distinct haplotypes that encompassed the class II region and exhibited transmission distortion. DRB1 and DQB1 typing of founders showed that the three haplotypes contained DRB1*1501/ DQB1*0602, DRB1*0801/ DQB1*0402, and DRB1*0301/DQB1*0201 alleles, respectively. By visualizing ancestral recombinants, we narrowed the disease-associated haplotypes containing DRB1*1501 and DRB1*0801 to an approximately 500-kb region. We conclude that HLA class II haplotypes containing DRB1 and DQB1 alleles are strong risk factors for human SLE.

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References 40 · Cited by 223

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Metadata

Authors
Graham, R. R., Ortmann, W. A., Langefeld, C. D., Jawaheer, D., Selby, S. A., Rodine, P. R., Baechler, E. C., Rohlf, K. E., Shark, K. B., Espe, K. J., Green, L. E., Nair, R. P., Stuart, P. E., Elder, J. T., King, R. A., Moser, K. L., Gaffney, P. M., Bugawan, T. L., Erlich, H. A., Rich, S. S., Gregersen, P. K., & Behrens, T. W.
Affiliations
  • University of Minnesota (US)
  • Wake Forest University Health Sciences (US)
  • North Shore University Hospital (US)
  • University of Michigan (US)
Corresponding author
Behrens, Timothy W.
ORCID
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2002-09
Volume
71
Issue
3
Pages
543-553
ISSN
0002-9297 (ISSN-L)
DOI
10.1086/342290
PMC
PMC379191
OpenAlex
W2013405032
Cited by
223
References
40
Citations by year
2026: 6 · 2025: 3 · 2024: 3 · 2023: 4 · 2022: 5 · 2021: 5 · 2020: 1 · 2019: 8 · 2018: 7 · 2017: 2 · 2016: 7 · 2015: 7 · 2013: 10 · 2012: 11
FWCI
9.83
Type
journal article
Language
en
Open access
Licence
Locations
  • The American Journal of Human Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (n01ar072232-005)
  • National Cancer Institute (N01 AR072232)
  • National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR043274, R01 AR 44222, N01-AR-7-2232, P01-AR45231, R01-AR43274)
Topics
  • Health Sciences › Medicine › Rheumatology › Systemic Lupus Erythematosus Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
Keywords
systemic lupus erythematosus, HLA class II, HLA-DQB1, HLA-DRB1, risk haplotype, transmission distortion, genetic risk factors, autoimmune disease, founder families, microsatellite mapping
MeSH terms
Alleles, Genotype, Haplotypes, HLA-DQ Antigens, HLA-DR Antigens, Humans, Lod Score, Lupus Erythematosus, Systemic, Recombination, Genetic, Linkage Disequilibrium, Case-Control Studies, Founder Effect, Genetic Predisposition to Disease, HLA-DRB1 Chains, HLA-DQ beta-Chains

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