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- W2110274269 abstract "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." @default.
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- W2110274269 date "2008-01-25" @default.
- W2110274269 modified "2023-10-15" @default.
- W2110274269 title "A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population" @default.
- W2110274269 cites W1508515609 @default.
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- W2110274269 cites W1967261224 @default.
- W2110274269 cites W1974351164 @default.
- W2110274269 cites W1974666828 @default.
- W2110274269 cites W1987088763 @default.
- W2110274269 cites W1987276980 @default.
- W2110274269 cites W2001295992 @default.
- W2110274269 cites W2001959880 @default.
- W2110274269 cites W2003782545 @default.
- W2110274269 cites W2005722082 @default.
- W2110274269 cites W2008693250 @default.
- W2110274269 cites W2012305198 @default.
- W2110274269 cites W2013252264 @default.
- W2110274269 cites W2013281032 @default.
- W2110274269 cites W2013583584 @default.
- W2110274269 cites W2016557482 @default.
- W2110274269 cites W2016954412 @default.
- W2110274269 cites W2018132252 @default.
- W2110274269 cites W2030597357 @default.
- W2110274269 cites W2034223906 @default.
- W2110274269 cites W2036036293 @default.
- W2110274269 cites W2041421438 @default.
- W2110274269 cites W2044833878 @default.
- W2110274269 cites W2048753387 @default.
- W2110274269 cites W2055552531 @default.
- W2110274269 cites W2058870601 @default.
- W2110274269 cites W2059010948 @default.
- W2110274269 cites W2059928028 @default.
- W2110274269 cites W2069368388 @default.
- W2110274269 cites W2070527591 @default.
- W2110274269 cites W2076176942 @default.
- W2110274269 cites W2076615635 @default.
- W2110274269 cites W2101598319 @default.
- W2110274269 cites W2102079012 @default.
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- W2110274269 cites W2129305579 @default.
- W2110274269 cites W2141155250 @default.
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- W2110274269 cites W2144553803 @default.
- W2110274269 cites W2144981953 @default.
- W2110274269 cites W2145684243 @default.
- W2110274269 cites W2146828787 @default.
- W2110274269 cites W2151625863 @default.
- W2110274269 cites W2152348310 @default.
- W2110274269 cites W2157494590 @default.
- W2110274269 cites W2159784636 @default.
- W2110274269 cites W2168647393 @default.
- W2110274269 cites W2170025624 @default.
- W2110274269 cites W4232536934 @default.
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- W2110274269 doi "https://doi.org/10.1007/s10038-007-0233-3" @default.
- W2110274269 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18219441" @default.
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