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Association of syst...
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
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Hom, Geoffrey (author)
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Graham, Robert R (author)
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Modrek, Barmak (author)
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show more...
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Taylor, Kimberly E (author)
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Ortmann, Ward (author)
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- Garnier, Sophie (author)
- Uppsala universitet,Molekylär medicin
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Lee, Annette T (author)
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Chung, Sharon A (author)
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Ferreira, Ricardo C (author)
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Pant, P V Krishna (author)
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Ballinger, Dennis G (author)
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Kosoy, Roman (author)
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Demirci, F Yesim (author)
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Kamboh, M Ilyas (author)
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Kao, Amy H (author)
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Tian, Chao (author)
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- Gunnarsson, Iva (author)
- Karolinska Institutet
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- Bengtsson, Anders (author)
- Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Rantapää-Dahlqvist, Solbritt (author)
- Umeå universitet,Reumatologi
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Petri, Michelle (author)
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Manzi, Susan (author)
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Seldin, Michael F (author)
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- Rönnblom, Lars (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Reumatologi
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- Syvänen, Ann-Christine (author)
- Uppsala universitet,Molekylär medicin
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Criswell, Lindsey A (author)
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Gregersen, Peter K (author)
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Behrens, Timothy W (author)
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(creator_code:org_t)
- Massachusetts Medical Society, 2008
- 2008
- English.
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In: New England Journal of Medicine. - : Massachusetts Medical Society. - 0028-4793 .- 1533-4406. ; 358:9, s. 900-909
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http://dx.doi.org/10...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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http://kipublication...
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https://lup.lub.lu.s...
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Abstract
Subject headings
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- BACKGROUND: Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease in which the risk of disease is influenced by complex genetic and environmental contributions. Alleles of HLA-DRB1, IRF5, and STAT4are established susceptibility genes; there is strong evidence for the existence of additional risk loci.METHODS: We genotyped more than 500,000 single-nucleotide polymorphisms (SNPs) in DNA samples from 1311 case subjects with SLE and 1783 control subjects; all subjects were North Americans of European descent. Genotypes from 1557 additional control subjects were obtained from public data repositories. We measured the association between the SNPs and SLE after applying strict quality-control filters to reduce technical artifacts and to correct for the presence of population stratification. Replication of the top loci was performed in 793 case subjects and 857 control subjects from Sweden.RESULTS: Genetic variation in the region upstream from the transcription initiation site of the gene encoding B lymphoid tyrosine kinase (BLK) and C8orf13 (chromosome 8p23.1) was associated with disease risk in both the U.S. and Swedish case–control series (rs13277113; odds ratio, 1.39; P=1×10−10) and also with altered levels of messenger RNA in B-cell lines. In addition, variants on chromosome 16p11.22, near the genes encoding integrin alpha M (ITGAM, or CD11b) and integrin alpha X (ITGAX), were associated with SLE in the combined sample (rs11574637; odds ratio, 1.33; P=3×10−11).
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
Keyword
- Antigens; CD11b/*genetics/metabolism
- B-Lymphocytes/metabolism
- Case-Control Studies
- Genome; Human
- Genotype
- Humans
- Lupus Erythematosus; Systemic/*genetics
- North America
- Polymorphism; Single Nucleotide
- Sweden
- src-Family Kinases/*genetics/metabolism
- MEDICINE
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Hom, Geoffrey
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Graham, Robert R
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Modrek, Barmak
-
Taylor, Kimberly ...
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Ortmann, Ward
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Garnier, Sophie
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show more...
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Lee, Annette T
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Chung, Sharon A
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Ferreira, Ricard ...
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Pant, P V Krishn ...
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Ballinger, Denni ...
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Kosoy, Roman
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Demirci, F Yesim
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Kamboh, M Ilyas
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Kao, Amy H
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Tian, Chao
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Gunnarsson, Iva
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Bengtsson, Ander ...
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Rantapää-Dahlqvi ...
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Petri, Michelle
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Manzi, Susan
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Seldin, Michael ...
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Rönnblom, Lars
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Syvänen, Ann-Chr ...
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Criswell, Lindse ...
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Gregersen, Peter ...
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Behrens, Timothy ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Rheumatology and ...
- Articles in the publication
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New England Jour ...
- By the university
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Umeå University
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Uppsala University
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Karolinska Institutet
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Lund University