Association of R602W in a protein tyrosine phosphatase gene with a high risk of rheumatoid arthritis in a British population: Evidence for an early onset/disease severity effect

Abstract

* SNP ϭ single-nucleotide polymorphism; OR ϭ odds ratio; 95% CI ϭ 95% confidence interval; RA ϭ rheumatoid arthritis. † Clinical data were not available for some cases. 358CONCISE COMMUNICATIONS

Finnish case–control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis

“…The data also clearly indicated a gene dosage effect of the T allele with TT homozygotes showing nearly a three-fold greater risk (3.58 vs 1.23) than heterozygotes (Table 1). This increased risk for TT homozygotes is consistent with that observed in other RA case-control studies 7,8,21 and similar to findings in both T1D and SLE. 7 Analysis of 429 RA simplex families using a transmission disequilibrium test also showed strong evidence for association (Table 2) consistent with the population association tests.…”

Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue

“…The highest T allele frequency (17.5%) was reported in northeast Russia, 14 followed by Finland (15.4%), 15 Ukraine (14.1%) 16 and Estonia (13.9%). 17 The frequency decreased toward the west, showing 11-13% in Poland, [18][19][20] 10-12% in Sweden, [21][22][23] Norway [24][25][26] and Germany, 24,[27][28][29] 11.7% in Croatia, 10-11% in the Czech Republic, 30,31 10.7% in Slovakia, 32 9.2% in Denmark, 33 and 8-10% in the UK [34][35][36][37][38][39] and the Netherlands. 24,[40][41][42] The decrease in the frequency toward the south was dramatic, with 7.75% in Hungary, 43 7.23% in Belgium, 7-8% in France, 44,45 5-7% in Spain 46-48 and 4.1% in Romania.…”

“…In total, 36 case-control studies were recruited for the present study with ORs ranging from 0.99 to 2.56. 3,14,15,18,22,24,26,28,32,35,[39][40][41][42]54,60,67,[92][93][94][95][96][97][98][99][100][101][102][103] Thirty-one out of thirty-six showed a significant association between PTPN22 and RA. Meta-analysis showed a strong association between the T allele and RA (OR ¼ 1.65; 95% CI ¼ 1.58-1.71, Po1.00 Â 10 À 16 ) (Figure 2b).…”

Investigation of Candidate Gene Polymorphisms in an Immune Response as Markers for the Risk of Developing Rheumatoid Arthritis and Producing Autoantibodies

“…[6,7,[11][12][13][14][15][16][17][18][19][20]. Величина риска развития РА у носителей хотя бы одной аллели Т (генотипы TT и CT) колеблется от 1,06 до 2,47 с тенденцией к повышению величины ОШ с юга на север, однако этот показатель также зависит от иссле-дуемой когорты пациентов (длительность заболевания на момент включения в исследование, семейные случаи РА и т.…”