scholarly journals Association of TNFAIP3 interacting protein 1, TNIP1 with systemic lupus erythematosus in a Japanese population: a case-control association study

2010 ◽  
Vol 12 (5) ◽  
pp. R174 ◽  
Author(s):  
Aya Kawasaki ◽  
Satoshi Ito ◽  
Hiroshi Furukawa ◽  
Taichi Hayashi ◽  
Daisuke Goto ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Association Study ◽  
Lupus Erythematosus ◽  
Japanese Population ◽  
Case Control ◽  
Systemic Lupus ◽  
Interacting Protein ◽  
Control Association

scholarly journals Association study of TRAF1-C5 polymorphisms with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese

2009 ◽  
Vol 69 (2) ◽  
pp. 368-373 ◽  
Author(s):  
K Nishimoto ◽  
Y Kochi ◽  
K Ikari ◽  
K Yamamoto ◽  
A Suzuki ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Systemic Lupus Erythematosus ◽  
Association Study ◽  
Lupus Erythematosus ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Control Series ◽  
Significant Difference ◽  
And Control

Objective:The primary aim of this study was to investigate the association of polymorphisms of TRAF1-C5, a newly identified rheumatoid arthritis (RA) risk locus in Caucasians, with susceptibility to RA and systemic lupus erythematosus (SLE) in Japanese populations. Gene expression levels of TRAF1 and C5 to assess the functional significance of genotypes were also analysed.Methods:A multicentre association study consisting of 4 RA case-control series (4397 cases and 2857 controls) and 3 SLE case-control series (591 cases and 2199 shared controls) was conducted. Genotyping was performed using TaqMan genotyping assay for two single nucleotide polymorphisms (SNPs) that showed the best evidence of association in the previous Caucasian studies. Quantifications of TRAF1 and C5 expression were performed with TaqMan expression assay.Results:Significant differences in allele frequency for both SNPs were observed between RA and control subjects (combined odds ratio  = 1.09), while no significant difference was detected between patients with SLE and controls. Interestingly, alleles rs3761847 A and rs10818488 G had increased the risk for RA in the present study, while they decreased the risk in the original studies. A significant difference was found between risk allele carriers and non-carriers of rs10818488 for the expression level of TRAF1 in phorbol myristate acetate-stimulated lymphoblastoid cell lines (p = 0.04).Conclusion:Association of TRAF1-C5 locus with RA susceptibility was detected in the Japanese populations with modest magnitude, while no significant association was observed for SLE. Significant positive effect of genotype on the expression of TRAF1 might support the genetic association between TRAF1 and RA.

scholarly journals Phenome-wide association study identifies dsDNA as a driver of major organ involvement in systemic lupus erythematosus

Lupus ◽  
2018 ◽  
Vol 28 (1) ◽  
pp. 66-76 ◽  
Author(s):  
A. Barnado ◽  
R.J. Carroll ◽  
C. Casey ◽  
L. Wheless ◽  
J.C. Denny ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Association Study ◽  
Lupus Erythematosus ◽  
Organ Involvement ◽  
Health Record ◽  
Systemic Lupus ◽  
False Discovery ◽  
Major Organ ◽  
Autoantibody Status ◽  
Dsdna Antibodies

In systemic lupus erythematosus (SLE), dsDNA antibodies are associated with renal disease. Less is known about comorbidities in patients without dsDNA or other autoantibodies. Using an electronic health record (EHR) SLE cohort, we employed a phenome-wide association study (PheWAS) that scans across billing codes to compare comorbidities in SLE patients with and without autoantibodies. We used our validated algorithm to identify SLE subjects. Autoantibody status was defined as ever positive for dsDNA, RNP, Smith, SSA and SSB. PheWAS was performed in antibody positive vs. negative SLE patients adjusting for age and race and using a false discovery rate of 0.05. We identified 1097 SLE subjects. In the PheWAS of dsDNA positive vs. negative subjects, dsDNA positive subjects were more likely to have nephritis ( p = 2.33 × 10−9) and renal failure ( p = 1.85 × 10−5). After adjusting for sex, race, age and other autoantibodies, dsDNA was independently associated with nephritis and chronic kidney disease. Those patients negative for dsDNA, RNP, SSA and SSB negative subjects were all more likely to have billing codes for sleep, pain and mood disorders. PheWAS uncovered a hierarchy within SLE-specific autoantibodies with dsDNA having the greatest impact on major organ involvement.

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