The DOI matches its Crossref record; 60 of the 60 references it cites were found in a registry or an index.
Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis
Open accessAbstract
Variation in major histocompatibility complex genes on chromosome 6p21.3, specifically the human leukocyte antigen HLA-DR2 or DRB1*1501-DQB1*0602 extended haplotype, confers risk for multiple sclerosis (MS). Previous studies of DRB1 variation and both MS susceptibility and phenotypic expression have lacked statistical power to detect modest genotypic influences, and have demonstrated conflicting results. Results derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner. DRB1*15 was strongly associated in families (P=7.8x10(-31)), and a dominant DRB1*15 dose effect was confirmed (OR=7.5, 95% CI=4.4-13.0, P<0.0001). A modest dose effect was also detected for DRB1*03; however, in contrast to DRB1*15, this risk was recessive (OR=1.8, 95% CI=1.1-2.9, P=0.03). Strong evidence for under-transmission of DRB1*14 (P=5.7x10(-6)) even after accounting for DRB1*15 (P=0.03) was present, confirming a protective effect. In addition, a high risk DRB1*15 genotype bearing DRB1*08 was identified (OR=7.7, 95% CI=4.1-14.4, P<0.0001), providing additional evidence for trans DRB1 allelic interactions in MS. Further, a significant DRB1*15 association observed in primary progressive MS families (P=0.0004), similar to relapsing-remitting MS families, suggests that DRB1-related mechanisms are contributing to both phenotypes. In contrast, results obtained from 2201 MS cases argue convincingly that DRB1*15 genotypes do not modulate age of onset, or significantly influence disease severity measured using expanded disease disability score and disease duration. These results contribute substantially to our understanding of the DRB1 locus and MS, and underscore the importance of using large sample sizes to detect modest genetic effects, particularly in studies of genotype-phenotype relationships.
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Cites
Rating neurologic impairment in multiple sclerosis: An expanded disability status scale (EDSS)
Kurtzke, J. F. (1983) · Neurology · doi:10.1212/wnl.33.11.1444 · Cited by 15,011
PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis
O'Connell, J. R., & Weeks, D. E. (1998) · The American Journal of Human Genetics · doi:10.1086/301904 · Cited by 2,056
ANKYLOSING SPONDYLITIS AND HL-A 27
Brewerton, D. A., Hart, F. D., Nicholls, A., Caffrey, M., James, D. C. O., & Sturrock, R. D. (1973) · The Lancet · doi:10.1016/s0140-6736(73)91360-3 · Cited by 1,836
Spreading of T-cell autoimmunity to cryptic determinants of an autoantigen
Lehmann, P. V., Forsthuber, T., Miller, A., & Sercarz, E. E. (1992) · Nature · doi:10.1038/358155a0 · Cited by 1,186
Multiple Sclerosis Severity Score: Using disability and disease duration to rate disease severity
Roxburgh, R. H. S. R., Seaman, S. R., Masterman, T., Hensiek, A. E., Sawcer, S. J., Vukusic, S., Achiti, I., Confavreux, C., Coustans, M., le Page, E., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000156155.19270.f8 · Cited by 963
Self-citationA genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22
Sawcer, S., Jones, H. B., Feakes, R., Gray, J., Smaldon, N., Chataway, J., Robertson, N., Clayton, D., Goodfellow, P. N., & Compston, A. (1996) · Nature Genetics · doi:10.1038/ng0896-464 · Cited by 643
Self-citationA Test for Linkage and Association in General Pedigrees: The Pedigree Disequilibrium Test
Martin, E. R., Monks, S. A., Warren, L. L., & Kaplan, N. L. (2000) · The American Journal of Human Genetics · doi:10.1086/302957 · Cited by 538
Kappos, L., Comi, G., Panitch, H., Oger, J., Antel, J., Conlon, P., Steinman, L., Comi, G., Kappos, L., Oger, J., et al. (2000) · Nature Medicine · doi:10.1038/80525 · Cited by 512
Primary progressive multiple sclerosis
Thompson, A. (1997) · Brain · doi:10.1093/brain/120.6.1085 · Cited by 506
Diagnostic criteria for primary progressive multiple sclerosis: a position paper.
Thompson, A. J., Montalbán, X., Barkhof, F., Brochet, B., Filippi, M., Miller, D. H., Polman, C. H., Stevenson, V. L., & McDonald, W. I. (2000) · PubMed · Cited by 352
Cited by
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
The International Multiple Sclerosis Genetics Consortium & The Wellcome Trust Case Control Consortium 2 (2011) · Nature · doi:10.1038/nature10251 · Cited by 2,697
Primary-progressive multiple sclerosis
Miller, D. H., & Leary, S. M. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70243-0 · Cited by 818
International MS Genetics Consortium, De Jager, P. L., Jia, X., Wang, J., de Bakker, P. I. W., Ottoboni, L., Aggarwal, N. T., Piccio, L., Raychaudhuri, S., Tran, D., et al. (2009) · Nature Genetics · doi:10.1038/ng.401 · Cited by 800
Self-citationMultiple sclerosis: risk factors, prodromes, and potential causal pathways
Ramagopalan, S. V., Dobson, R., Meier, U. C., & Giovannoni, G. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70094-6 · Cited by 548
Class II HLA interactions modulate genetic risk for multiple sclerosis
the International Multiple Sclerosis Genetics Consortium (2015) · Nature Genetics · doi:10.1038/ng.3395 · Cited by 418
Metadata
- Authors
- Barcellos, L. F., Sawcer, S., Ramsay, P. P., Baranzini, S. E., Thomson, G., Briggs, F., Cree, B. C. A., Begovich, A. B., Villoslada, P., Montalban, X., Uccelli, A., Savettieri, G., Lincoln, R. R., DeLoa, C., Haines, J. L., Pericak-Vance, M. A., Compston, A., Hauser, S. L., & Oksenberg, J. R.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-09-15
- Volume
- 15
- Issue
- 18
- Pages
- 2813-2824
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2111536363
- Cited by
- 317
- References
- 60
- FWCI
- 17.29
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Barcellos, L. F., Sawcer, S., Ramsay, P. P., Baranzini, S. E., Thomson, G., Briggs, F., Cree, B. C. A., Begovich, A. B., Villoslada, P., Montalban, X., Uccelli, A., Savettieri, G., Lincoln, R. R., DeLoa, C., Haines, J. L., Pericak-Vance, M. A., Compston, A., Hauser, S. L., & Oksenberg, J. R. (2006). Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddl223
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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