PTPN22:: Its role in SLE and autoimmunity

被引:81
作者
Chung, Sharon A. [1 ]
Criswell, Lindsey A. [1 ]
机构
[1] Univ Calif San Francisco, Dept Med, Rosalind Russell Med Res Ctr Arthrit, San Francisco, CA USA
关键词
SLE; PTPN22; autoimmunity; genetics;
D O I
10.1080/08916930701510848
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
A functional variant of protein tyrosine phosphatase nonreceptor 22 (PTPN22) has recently been shown to be associated with multiple autoimmune diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, type 1 diabetes, and autoimmune thyroid disease. In this review, we discuss the structure and function of this gene and its disease-associated polymorphisms. In addition, we review the studies investigating the association between this gene and SLE, along with other autoimmune diseases.
引用
收藏
页码:582 / 590
页数:9
相关论文
共 49 条
[1]   Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population [J].
Baca, V. ;
Velazquez-Cruz, R. ;
Salas-Martinez, G. ;
Espinosa-Rosales, F. ;
Saldana-Alvarez, Y. ;
Orozco, L. .
GENES AND IMMUNITY, 2006, 7 (08) :693-695
[2]   Multiplex family-based study in systemic lupus erythematosus:: association between the R620W polymorphism of PTPN22 and the FcγRIIa (CD32A) R131 allele [J].
Balada, E. ;
Villarreal-Tolchinsky, J. ;
Ordi-Ros, J. ;
Labrador, M. ;
Serrano-Acedo, S. ;
Martinez-Lostao, L. ;
Vilardell-Tarres, M. .
TISSUE ANTIGENS, 2006, 68 (05) :432-438
[3]  
Balada E, 2006, CLIN EXP RHEUMATOL, V24, P321
[4]   The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese [J].
Ban, Y ;
Tozaki, T ;
Taniyama, M ;
Tomita, M ;
Ban, Y .
THYROID, 2005, 15 (10) :1115-1118
[5]   The common variants/multiple disease hypothesis of common complex genetic disorders [J].
Becker, KG .
MEDICAL HYPOTHESES, 2004, 62 (02) :309-317
[6]   The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis [J].
Begovich, AB ;
Caillier, SJ ;
Alexander, HC ;
Penko, JM ;
Hauser, SL ;
Barcellos, LF ;
Oksenberg, JR .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (01) :184-187
[7]   A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis [J].
Begovich, AB ;
Carlton, VEH ;
Honigberg, LA ;
Schrodi, SJ ;
Chokkalingam, AP ;
Alexander, HC ;
Ardlie, KG ;
Huang, QQ ;
Smith, AM ;
Spoerke, JM ;
Conn, MT ;
Chang, M ;
Chang, SYP ;
Saiki, RK ;
Catanese, JJ ;
Leong, DU ;
Garcia, VE ;
McAllister, LB ;
Jeffery, DA ;
Lee, AT ;
Batliwalla, F ;
Remmers, E ;
Criswell, LA ;
Seldin, MF ;
Kastner, DL ;
Amos, CI ;
Sninsky, JJ ;
Gregersen, PK .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (02) :330-337
[8]   A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes [J].
Bottini, N ;
Musumeci, L ;
Alonso, A ;
Rahmouni, S ;
Nika, K ;
Rostamkhani, M ;
MacMurray, J ;
Meloni, GF ;
Lucarelli, P ;
Pellecchia, M ;
Eisenbarth, GS ;
Comings, D ;
Mustelin, T .
NATURE GENETICS, 2004, 36 (04) :337-338
[9]   Role of PTPN22 in type 1 diabetes and other autoimmune diseases [J].
Bottini, Nunzio ;
Vang, Torkel ;
Cucca, Francesco ;
Mustelin, Tomas .
SEMINARS IN IMMUNOLOGY, 2006, 18 (04) :207-213
[10]   PTPN22 genetic variation:: Evidence for multiple variants associated with rheumatoid arthritis [J].
Carlton, VEH ;
Hu, XL ;
Chokkalingam, AP ;
Schrodi, SJ ;
Brandon, R ;
Alexander, HC ;
Chang, M ;
Catanese, JJ ;
Leong, DU ;
Ardlie, KG ;
Kastner, DL ;
Seldin, MF ;
Criswell, LA ;
Gregersen, PK ;
Beasley, E ;
Thomson, G ;
Amos, CI ;
Begovich, AB .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (04) :567-581