| IAN5 polymorphisms are associated with systemic lupus erythematosus. | |
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MedLine Citation:
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PMID: 19762377 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Systemic lupus erythematosus (SLE) is a representative autoimmune disease, which is frequently associated with lymphopenia. Biobreeding (BB) rat is a typical animal model which develops autoimmune diseases with lymphopenia which results from a frame-shift mutation in the immune-associated nucleotide (IAN) 5 gene. IAN5 is involved in the regulation of T-cell activation and survival. To examine the association of IAN5 gene with SLE, we scrutinised the single nucleotide polymorphisms (SNPs) in the IAN5 gene. We conducted a case-control study where 132 SLE patients, 505 rheumatoid arthritis (RA) patients, and 546 controls were genotyped for four SNPs in the IAN5 gene. Two SNPs (+2071C > T and +2677G > A) were associated with susceptibility to SLE (P = 0.040 and 0.045, respectively), and -4432G > A SNP was associated with the development of leukopenia (P = 0.028) and the requirement of steroid pulse therapy (P = 0.040) in SLE patients. Haplotype analyses showed that Ht1(CTCG) was associated with susceptibility to SLE (P = 0.036), and Ht4(ACCG), Ht5(ACTA) and Ht6(GCCG) were associated with the development of nephritis (P = 0.017, 0.019, 0.022, respectively). In conclusion, the IAN5 polymorphisms were associated with susceptibility to SLE and the development of clinical disease manifestations in a strictly Korean population. |
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Authors:
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M K Lim; D H Sheen; S A Kim; S K Won; S-S Lee; S-C Chae; H-T Chung; S C Shim |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Lupus Volume: 18 ISSN: 1477-0962 ISO Abbreviation: Lupus Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-09-18 Completed Date: 2010-01-05 Revised Date: 2010-09-24 |
Medline Journal Info:
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Nlm Unique ID: 9204265 Medline TA: Lupus Country: England |
Other Details:
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Languages: eng Pagination: 1045-52 Citation Subset: IM |
Affiliation:
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Department of Medicine, School of Medicine and Medical Sciences Research Institute, Eulji University, 302-799 Daejeon, South Korea. |
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Arthritis, Rheumatoid / genetics, immunology Asian Continental Ancestry Group / genetics GTP-Binding Proteins / genetics*, immunology Genetic Predisposition to Disease Genotype Haplotypes Humans Korea Linkage Disequilibrium Lupus Erythematosus, Systemic / drug therapy, genetics*, immunology*, pathology Polymorphism, Single Nucleotide* Rats Rats, Inbred Strains Steroids / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/GIMAP5 protein, human; 0/Steroids; EC 3.6.1.-/GTP-Binding Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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