2005
DOI: 10.1002/art.20771
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Abstract: Objective.To assess the possible association between the PTPN22 gene 1858C3 T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE).Methods. Our study population consisted of 826 RA patients, 338 SLE patients, and 1,036 healthy subjects. All subjects were of Spanish Caucasian origin. Genotyping of the PTPN22 gene 1858C3 T polymorphism was performed by real-time polymerase chain reaction technology, using t… Show more

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Cited by 279 publications
(220 citation statements)
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“…Both studies confirm that the 620W allele confers a risk for RA of ϳ1.5-2.0. In addition, these studies demonstrated that with the exception of one of the Canadian populations, homozygosity for the 620W variant more than doubles this risk, which is consistent with previous reports (4,11,12). Thus, overall, there is convincing evidence of a dose effect in disease susceptibility.…”
Section: Peter K Gregersen and Franak Batliwallasupporting
confidence: 89%
See 1 more Smart Citation
“…Both studies confirm that the 620W allele confers a risk for RA of ϳ1.5-2.0. In addition, these studies demonstrated that with the exception of one of the Canadian populations, homozygosity for the 620W variant more than doubles this risk, which is consistent with previous reports (4,11,12). Thus, overall, there is convincing evidence of a dose effect in disease susceptibility.…”
Section: Peter K Gregersen and Franak Batliwallasupporting
confidence: 89%
“…These studies were followed by several confirmations of the PTPN22 association with type 1 diabetes (5-7) as well as convincing associations with systemic lupus erythematosus (8), Graves' disease, and Hashimoto thyroiditis (9,10). More recently, several confirmations of the RA association have been reported (11,12).…”
Section: Peter K Gregersen and Franak Batliwallamentioning
confidence: 92%
“…Several studies have associated the 1858T allele with autoimmune diseases [18][19][20][21][22][23][24][25] and generalised vitiligo is thought to have an autoimmune aetiology, 1 although this remains undefined. The frequent association of vitiligo with autoimmune disorders and the demonstration of autoantibodies to melanosomal proteins in the serum of patients with the disease support this theory.…”
Section: Discussionmentioning
confidence: 99%
“…[10][11][12][13][14][15][16][17] Recently, the missense R620W polymorphism in the PTPN22 gene at nucleotide 1858 (1858C-T) in codon 620 (620Arg-Trp) has been associated with autoimmune diseases including type I diabetes mellitus, Graves' disease, systemic lupus erythematosus and rheumatoid arthritis. [18][19][20][21][22][23][24][25] The gene, located on chromosome 1p13, 19 encodes lymphoid protein tyrosine phosphatase (LYP), which is important in the negative control of T lymphocyte activation. 26 Lymphoid protein tyrosine phosphatase is expressed in T lymphocytes and associates with C-terminal Src kinase (CSK) to form a complex that suppresses the T-cell receptor signalling kinases LCK and FYN.…”
Section: Introductionmentioning
confidence: 99%
“…The genetic basis for RA is rather complex with a poorly understood cause. Several studies suggest roles of HLA-DRB1 [3] and PTPN22 [4][5][6] in RA pathogenesis. Three further RA risk loci have been identified recently, including the STAT4 gene [7][8][9], loci in the 6q23 [10][11] and TRAF1/C5 [12][13].…”
Section: Introductionmentioning
confidence: 99%