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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2008-1-31
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pubmed:abstractText |
Systemic lupus erythematosus (SLE) is one of the common autoimmune diseases with complex genetic components. To identify a gene(s) susceptible to SLE, we performed a case-control association study using genome-wide gene-based single nucleotide polymorphisms (SNPs) in Japanese population. Here we report that an SNP (rs3748079) located in a promoter region of the inositol 1,4,5-triphosphate receptor type 3 (ITPR3) gene on chromosome 6p21 was significantly associated with SLE in two independent Japanese case-control samples [P=0.0000000178 with odds ratio of 1.88, 95% confidence interval (CI) of 1.51-2.35]. This particular SNP also revealed associations with rheumatoid arthritis (RA) (P=0.0084 with odds ratio of 1.23, 95% CI of 1.05-1.43) and with Graves' disease (GD) (P=0.00036 with odds ratio of 1.57, 95% CI of 1.22-2.02). We found the binding of NKX2.5 specific to the non-susceptible T allele in the region including this SNP. Furthermore, an SNP in NKX2.5 also revealed an association with SLE (P=0.0037 with odds ratio of 1.74, 95% CI of 1.19-2.55). Individuals with risk genotype of both ITPR3 and NKX2.5 loci have higher risk for SLE (odds ratio=5.77). Our data demonstrate that genetic and functional interactions of ITPR3 and NKX2.5 play a crucial role in the pathogenesis of SLE.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/ITPR3 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Inositol 1,4,5-Trisphosphate...,
http://linkedlifedata.com/resource/pubmed/chemical/Luciferases,
http://linkedlifedata.com/resource/pubmed/chemical/NKX2-5 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
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pubmed:status |
MEDLINE
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pubmed:issn |
1434-5161
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pubmed:author |
pubmed-author:IidaAritoshiA,
pubmed-author:KamataniNaoyukiN,
pubmed-author:KamataniYoichiroY,
pubmed-author:KawaguchiYasushiY,
pubmed-author:KochiYutaY,
pubmed-author:MatsudaKoichiK,
pubmed-author:NakamuraYusukeY,
pubmed-author:NittaKosakuK,
pubmed-author:OhnisiYozoY,
pubmed-author:OishiTetsuyaT,
pubmed-author:OtsuboShigeruS,
pubmed-author:SaitoSusumuS,
pubmed-author:ShimaneKenichiK,
pubmed-author:TakeiTakashiT,
pubmed-author:TokunagaKatsushiK,
pubmed-author:TsuchiyaKenK,
pubmed-author:UchidaKeikoK,
pubmed-author:UsamiMasayukiM,
pubmed-author:YamamotoKazuhikoK,
pubmed-author:YumuraWakoW
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pubmed:issnType |
Print
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pubmed:volume |
53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
151-62
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pubmed:dateRevised |
2010-6-16
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pubmed:meshHeading |
pubmed-meshheading:18219441-Adult,
pubmed-meshheading:18219441-Arthritis, Rheumatoid,
pubmed-meshheading:18219441-Binding Sites,
pubmed-meshheading:18219441-Case-Control Studies,
pubmed-meshheading:18219441-Chromatin Immunoprecipitation,
pubmed-meshheading:18219441-Cohort Studies,
pubmed-meshheading:18219441-Female,
pubmed-meshheading:18219441-Genetic Predisposition to Disease,
pubmed-meshheading:18219441-Genotype,
pubmed-meshheading:18219441-Graves Disease,
pubmed-meshheading:18219441-Homeodomain Proteins,
pubmed-meshheading:18219441-Humans,
pubmed-meshheading:18219441-Inositol 1,4,5-Trisphosphate Receptors,
pubmed-meshheading:18219441-Japan,
pubmed-meshheading:18219441-Luciferases,
pubmed-meshheading:18219441-Lupus Erythematosus, Systemic,
pubmed-meshheading:18219441-Middle Aged,
pubmed-meshheading:18219441-Polymorphism, Single Nucleotide,
pubmed-meshheading:18219441-Promoter Regions, Genetic,
pubmed-meshheading:18219441-RNA, Messenger,
pubmed-meshheading:18219441-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:18219441-Transcription Factors
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pubmed:year |
2008
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pubmed:articleTitle |
A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population.
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pubmed:affiliation |
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, the University of Tokyo, 4-6-1 Shirokanedai, Minato, Tokyo, 108-8639, Japan.
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pubmed:publicationType |
Journal Article,
Comparative Study
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