The DOI matches its Crossref record; 144 of the 146 references it cites were found in a registry or an index.
HLA-DR15 Haplotype and Multiple Sclerosis: A HuGE Review
Abstract
An association between multiple sclerosis (MS) and the human leukocyte antigen (HLA) complex, a dense cluster of genes on the short arm of chromosome 6, was first noted over 30 years ago. In Caucasian populations of Northern European descent, the DR15 haplotype (DRB1*1501-DQA1*0102-DQB1*0602) has been hypothesized to be the primary HLA genetic susceptibility factor for MS. However, studies of other populations have produced varying results. Thus, the authors reviewed the literature for articles on the association between the DR15 haplotype and MS. They identified 72 papers meeting the inclusion criteria: human genetic studies written in English that were published between 1993 and 2004 and that reported allele frequencies for HLA-DRB1*1501, HLA-DQA1*0102, or HLA-DQB1*0602 or the frequency of the DRB1*1501-DQA1*0102-DQB1*0602 haplotype. Most of the studies identified used a case-control design (n = 60), while the remainder used a family-based design (n = 22). In most of these papers, investigators reported a higher frequency of the DR15 haplotype and/or its component alleles among MS cases than among controls. However, the authors' confidence in these results is tempered by factors related to study design that may have biased the outcomes.
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In the citing paper
“the DR15 haplotype and its component alleles also associate with protection against diabetes108, a high risk for multiple sclerosis109,110, and risk or protective effects with many other immune-mediated diseases”
From Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) · cites this paper as [110]
In the citing paper
“Beyond these findings, a specific class II human leukocyte antigen (HLA)-DR haplotype, DR15, has been suggested to impart risk for both AD and MS (7, 8).”
From The Transcriptional Landscape of Microglial Genes in Aging and Neurodegenerative Disease (2019) · cites this paper as [7]
Citations
Cites
Haines, J. L., Ter‐Minassian, M., Bazyk, A., Gusella, J. F., Kim, D. J., Terwedow, H. A., Pericak‐Vance, M. A., Rimmler, J. B., Haynes, C. S., Roses, A. D., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-469 · Cited by 650
A functional and structural basis for TCR cross-reactivity in multiple sclerosis
Lang, H., Jacobsen, H. J., Ikemizu, S., Andersson, C., Harlos, K., Madsen, L. S., Hjorth, P., Søndergaard, L., Svejgaard, A., Wucherpfennig, K. W., et al. (2002) · Nature Immunology · doi:10.1038/ni835 · Cited by 592
Epstein-Barr virus and multiple sclerosis
Robinson, W. H., & Steinman, L. (2022) · Science · doi:10.1126/science.abm7930 · Cited by 338
Mapping Multiple Sclerosis Susceptibility to the HLA-DR Locus in African Americans
Oksenberg, J. R., Barcellos, L. F., Cree, B., Baranzini, S. E., Bugawan, T. L., Khan, O. A., Lincoln, R., Swerdlin, A., Mignot, E. J.-M., Lin, L., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/380997 · Cited by 334
Multiple Sclerosis: Association with HL—A3
NAITO, S., NAMEROW, N., MICKEY, M. R., & TERASAKI, P. I. (1972) · Tissue Antigens · doi:10.1111/j.1399-0039.1972.tb00111.x · Cited by 308
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HLA-DR2 Dose Effect on Susceptibility to Multiple Sclerosis and Influence on Disease Course
Barcellos, L. F., Oksenberg, J. R., Begovich, A. B., Martin, E. R., Schmidt, S., Vittinghoff, E., Goodin, D. S., Pelletier, D., Lincoln, R., Bucher, P., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/367781 · Cited by 293
Haines, J. L. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.8.1229 · Cited by 281
Vitamin D and Multiple Sclerosis
Hayes, C. E., Cantorna, M. T., & DeLuca, H. F. (1997) · Experimental Biology and Medicine · doi:10.3181/00379727-216-44153a · Cited by 236
Research works printed but not linked: 1
- Minden, 1993, Multiple sclerosis: a statistical portrait. A compendium of data on demographics, disability, and health services utilization in the United States
Cited by
Sorted by citations
Alzheimer Disease Genetics Consortium (ADGC), Kunkle, B. W., The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, P. A. E. R. F. A. D. C. (., Grenier-Boley, B., Sims, R., Bis, J. C., Damotte, V., Naj, A. C., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0358-2 · Cited by 2,946
The HLA genomic loci map: expression, interaction, diversity and disease
Shiina, T., Hosomichi, K., Inoko, H., & Kulski, J. K. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2008.5 · Cited by 795
Latitude is significantly associated with the prevalence of multiple sclerosis: a meta-analysis
Simpson, S., Blizzard, L., Otahal, P., Van der Mei, I., & Taylor, B. (2011) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2011.240432 · Cited by 718
Vitamin D in Autoimmunity: Molecular Mechanisms and Therapeutic Potential
Dankers, W., Colin, E. M., van Hamburg, J. P., & Lubberts, E. (2017) · Frontiers in Immunology · doi:10.3389/fimmu.2016.00697 · Cited by 466
Body size and risk of MS in two cohorts of US women
Munger, K. L., Chitnis, T., & Ascherio, A. (2009) · Neurology · doi:10.1212/wnl.0b013e3181c0d6e0 · Cited by 441
Metadata
- Authors
- Schmidt, H., Williamson, D., & Ashley-Koch, A.
- Affiliations
- Accelerated Cure Project for Multiple Sclerosis (US)
- Centers for Disease Control and Prevention (US)
- Venue
- American Journal of Epidemiology
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-02-28
- Volume
- 165
- Issue
- 10
- Pages
- 1097-1109
- ISSN
- 0002-9262 (ISSN-L)
- 1476-6256
- OpenAlex
- W2146798707
- Cited by
- 212
- References
- 146
- Citations by year
- 2026: 10 · 2025: 9 · 2024: 10 · 2023: 5 · 2022: 12 · 2021: 8 · 2020: 14 · 2019: 10 · 2018: 16 · 2017: 13 · 2016: 9 · 2015: 14 · 2014: 7 · 2013: 15 · 2012: 13
- FWCI
- 0.96
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Epidemiology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
- Keywords
- multiple sclerosis, HLA-DRB1*1501, HLA-DQA1*0102, HLA-DQB1*0602, genetic susceptibility, HLA complex, allele frequency, case-control study, family-based association study, study design bias
- MeSH terms
- Alleles, Multigene Family, Haplotypes, HLA-D Antigens, Humans, Multiple Sclerosis
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