原创力文档the balance of expression of ptpn22 splice forms is significantly different in rheumatoid arthritis patients compared with controlsptpn22拼接的表达形式的平衡与控制相比,风湿性关节炎患者明显不同.pdfVIP
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the balance of expression of ptpn22 splice forms is significantly different in rheumatoid arthritis patients compared with controlsptpn22拼接的表达形式的平衡与控制相比,风湿性关节炎患者明显不同
Ronninger et al. Genome Medicine 2012, 4:2
/content/4/1/2
RESEARCH Open Access
The balance of expression of PTPN22 splice forms
is significantly different in rheumatoid arthritis
patients compared with controls
1*† 2† 1 3 4 4
Marcus Ronninger , Yongjing Guo , Klementy Shchetynsky , Andrew Hill , Mohsen Khademi , Tomas Olsson ,
3 1 2 2 2
Padmalatha S Reddy , Maria Seddighzadeh , James D Clark , Lih-Ling Lin , Margot O’Toole and
Leonid Padyukov1
Abstract
Background: The R620W variant in protein tyrosine phosphatase non-receptor 22 (PTPN22) is associated with
rheumatoid arthritis (RA). The PTPN22 gene has alternatively spliced transcripts and at least two of the splice forms
have been confirmed to encode different PTPN22 (LYP) proteins, but detailed information regarding expression of
these is lacking, especially with regard to autoimmune diseases.
Methods: We have investigated the mRNA expression of known PTPN22 splice forms with TaqMan real-time PCR
in relation to ZNF592 as an endogenous reference in peripheral blood cells from three independent cohorts with
RA patients (n = 139) and controls (n = 111) of Caucasian origin. Polymorphisms in the PTPN22 locus (25 SNPs) and
phenotypic data (gender, disease activity, ACPA and RF status) were used for analysis. Additionally, we addressed
possible effects of methotrexate treatment on PTPN22 expression.
Results: We found consistent differences in the expression of the PTPN22 splice forms in unstimulated peripheral
blood mononuclear cells between RA patients and normal controls. This difference was more pronoun
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