The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1
(2005) In Genes and Immunity 6(8). p.658-662- Abstract
- The gene PTPN22 is located on chromosome 1p13 and encodes a protein tyrosine phosphatase called the lymphoid-specific phosphatase (Lyp). Lyp is expressed in lymphocytes, where it physically associates through its proline-rich motif ( called P1) with the SH3 domain of the protein tyrosine kinase Csk, an important suppressor of the Src family of kinases Lck and Fyn, which mediate TCR signaling. Therefore, it is said that interaction between Lyp and Csk enables these effectors to inhibit T-cell activation synergistically. It was reported that a missense single nucleotide polymorphism, R620W (rs2476601), 1858C --> T encodes an amino-acid change in the P1 proline-rich motif of the gene PTPN22 and is associated with SLE in North American... (More)
- The gene PTPN22 is located on chromosome 1p13 and encodes a protein tyrosine phosphatase called the lymphoid-specific phosphatase (Lyp). Lyp is expressed in lymphocytes, where it physically associates through its proline-rich motif ( called P1) with the SH3 domain of the protein tyrosine kinase Csk, an important suppressor of the Src family of kinases Lck and Fyn, which mediate TCR signaling. Therefore, it is said that interaction between Lyp and Csk enables these effectors to inhibit T-cell activation synergistically. It was reported that a missense single nucleotide polymorphism, R620W (rs2476601), 1858C --> T encodes an amino-acid change in the P1 proline-rich motif of the gene PTPN22 and is associated with SLE in North American white individuals. PTPN22 gene polymorphisms were genotyped in 571 Swedish SLE patients and 1042 healthy controls using TaqMan SNP Genotyping Assay. Differences were observed between cases and control subjects at both the allele (chi(2) = 11.2895; P = 0.0007,1df) and genotype (chi(2) = 10.2243; P = 0.0013, 1df) levels. We also found evidence of a genetic association between PTPN22 and renal disorder (chi(2) = 9.5660; P = 0.0019). We then analyzed if in patients with renal disorder associations with PDCD1 and PTPN22 were independent. Our data suggest that this appears to be the case although we observed some degree of interaction. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/211642
- author
- Reddy, MVPL ; Johansson, M ; Sturfelt, Gunnar LU ; Jönsen, Andreas LU ; Gunnarsson, I ; Svenungsson, E ; Rantapaa-Dahlqvist, S and Alarcon-Riquelme, M
- organization
- publishing date
- 2005
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- polymorphism, Fyn, Lck, PTPN22, Lyp, systemic lupus erythematosus
- in
- Genes and Immunity
- volume
- 6
- issue
- 8
- pages
- 658 - 662
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:16052172
- wos:000233656800003
- scopus:28544444365
- pmid:16052172
- ISSN
- 1476-5470
- DOI
- 10.1038/sj.gene.6364252
- language
- English
- LU publication?
- yes
- id
- 81ceecc6-fe85-4a05-b3e2-43ef6500287b (old id 211642)
- date added to LUP
- 2016-04-01 11:52:21
- date last changed
- 2022-02-10 22:47:31
@article{81ceecc6-fe85-4a05-b3e2-43ef6500287b,
abstract = {{The gene PTPN22 is located on chromosome 1p13 and encodes a protein tyrosine phosphatase called the lymphoid-specific phosphatase (Lyp). Lyp is expressed in lymphocytes, where it physically associates through its proline-rich motif ( called P1) with the SH3 domain of the protein tyrosine kinase Csk, an important suppressor of the Src family of kinases Lck and Fyn, which mediate TCR signaling. Therefore, it is said that interaction between Lyp and Csk enables these effectors to inhibit T-cell activation synergistically. It was reported that a missense single nucleotide polymorphism, R620W (rs2476601), 1858C --> T encodes an amino-acid change in the P1 proline-rich motif of the gene PTPN22 and is associated with SLE in North American white individuals. PTPN22 gene polymorphisms were genotyped in 571 Swedish SLE patients and 1042 healthy controls using TaqMan SNP Genotyping Assay. Differences were observed between cases and control subjects at both the allele (chi(2) = 11.2895; P = 0.0007,1df) and genotype (chi(2) = 10.2243; P = 0.0013, 1df) levels. We also found evidence of a genetic association between PTPN22 and renal disorder (chi(2) = 9.5660; P = 0.0019). We then analyzed if in patients with renal disorder associations with PDCD1 and PTPN22 were independent. Our data suggest that this appears to be the case although we observed some degree of interaction.}},
author = {{Reddy, MVPL and Johansson, M and Sturfelt, Gunnar and Jönsen, Andreas and Gunnarsson, I and Svenungsson, E and Rantapaa-Dahlqvist, S and Alarcon-Riquelme, M}},
issn = {{1476-5470}},
keywords = {{polymorphism; Fyn; Lck; PTPN22; Lyp; systemic lupus erythematosus}},
language = {{eng}},
number = {{8}},
pages = {{658--662}},
publisher = {{Nature Publishing Group}},
series = {{Genes and Immunity}},
title = {{The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1}},
url = {{http://dx.doi.org/10.1038/sj.gene.6364252}},
doi = {{10.1038/sj.gene.6364252}},
volume = {{6}},
year = {{2005}},
}