Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population

Wipff, Julien; Allanore, Yannick; Kahan, André; Meyer, Olivier; Mouthon, Luc; Guillevin, L; Pierlot, Céline; Glikmans, Elodie; Bardin, Thomas; Boileau, Cathérine; Cornélis, François; Dieudé, Philippe

doi:10.1136/ard.2005.048181

Cited by 35 publications

(25 citation statements)

References 13 publications

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“…In addition, even the association of 1858C4T SNP with autoantibodymediated diseases is not absolute; for example, systemic scleroderma, characterized by many autoantibodies, 24 is not associated with it. 25 In summary, we found strong associations of 1858C4T SNP with RA and its several clinical manifestations. We also performed, for the first time, a study on the distribution of 1858C4T in allergic asthma showing no association of this SNP with susceptibility to asthma or with its severity.…”

Section: Discussionmentioning

confidence: 85%

Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma

et al. 2007

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Section: Discussionmentioning

confidence: 85%

Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma

et al. 2007

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“…The highest frequency of the minor allele (T allele) has been observed in Scandinavian countries [12.3% in Sweden (Reddy et al, 2005) and 15.5% in Finland (Seldin et al, 2005)]. Minor allele frequencies in Western Europe have ranged from 7 to 10% [Spain, 7-7.4% (Orozco et al, 2005); France, 9.2% (Wipff et al, 2006); Germany, 10% (Jagiello et al, 2005); UK, 10.3% (Hinks et al, 2006), and Italy, 2.1% (Bottini et al, 2004)]. The C1858T SNP is considerably less polymorphic in non-Caucasian populations such as Colombian (4.3%) and Moroccan populations (3.22%) (Gomez et al, 2005b;Lamsyah et al, 2009 Table 2.…”

Section: Discussionmentioning

confidence: 99%

R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran

Kouhpayeh

Hashemi²,

Hashemi³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, which encodes an intracellular lymphoid-specific phosphatase, is considered an important regulator of T-cell activation. We investigated a possible association between the PTPN22 C1858T (R620W) polymorphism and pulmonary tuberculosis in an Iranian population. Single nucleotide polymorphisms of PTPN22 C1858T (rs2476601) were genotyped in 172 pulmonary tuberculosis cases and 204 normal subjects from Zaheden, Iran. Frequencies of genotypes CC, CT and TT of the PTPN22 C1858T polymorphism were 98.3, 1.7 and 0% in the pulmonary tuberculosis patients, and 96.1, 3.9 and 0% in the control group, respectively (P = 0.239). The frequency of the minor (T) allele was 0.8% in pulmonary tuberculosis patients and 2.0% in controls. Significant differences were not observed in genotype or allele frequencies of PTPN22 C1858T in the comparison between pulmonary tuberculosis patients and healthy subjects in our Iranian population sample.

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“…This gene is to be further explored for various populations, to provide accurate genotype association estimates for RA as well as for other autoimmune diseases. It would be particularly interesting to determine why PTPN22 is clearly involved in some diseases with autoantibodies, but not with all, such as systemic scleroderma (14). Family based association studies will help to validate associations.…”

Section: Discussionmentioning

confidence: 99%

“…A common feature of those diseases is the presence of autoantibodies in the serum. However, some diseases with autoantibodies are not associated with PTPN22, such as systemic scleroderma (14). In RA, the Author contributions: L.M., P.D., B.P., and F.C.…”

mentioning

confidence: 99%

Linkage proof for PTPN22 , a rheumatoid arthritis susceptibility gene and a human autoimmunity gene

Michou

Lasbleiz

Rat

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

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The tyrosine phosphatase PTPN22 allele 1858T has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. RA is the most frequent of those multifactorial diseases. The RA association was usually restricted to serum rheumatoid factor positive disease (RF ؉ ). No interaction was shown with HLA-DRB1, the first RA gene. Many case-control studies replicated the RA association, showing an allele frequency increase of Ϸ5% on average and large variations of population allele frequencies (2.1-15.5%). In multifactorial diseases, the final proof for a new susceptibility allele is provided by departure from Mendel's law (50% transmission from heterozygous parents). For PTPN22-1858T allele, convincing linkage proof was available only for type 1 diabetes. We aimed at providing this proof for RA. We analyzed 1,395 West European Caucasian individuals from 465 ''trio'' families. We replicated evidence for linkage, demonstrating departure from Mendel's law in this subset of early RA onset patients. We estimated the overtransmission of the 1858T allele in RF ؉ families: T ‫؍‬ 63%, P < 0.0007. The 1858T allele frequency increased from 11.0% in controls to 17.4% in RF ؉ RA for the French Caucasian population and the susceptibility genotype (1858T/T or T/C) from 20.2% to 31.6% [odds ratio (OR) ‫؍‬ 1.8 (1.2-2.8)]. In conclusion, we provided the linkage proof for the PTPN22-1858T allele and RF ؉ RA. With diabetes and RA, PTPN22 is therefore a ''linkage-proven'' autoimmunity gene. PTPN22 accounting for Ϸ1% of the RA familial aggregation, many new genes could be expected that are as many leads to definitive therapy for autoimmune diseases.linkage analysis ͉ R620W polymorphism ͉ rheumatoid factor ͉ transmission disequilibrium ͉ LYP protein

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Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population

Cited by 35 publications

References 13 publications

Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma

Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma

R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran

Linkage proof for PTPN22 , a rheumatoid arthritis susceptibility gene and a human autoimmunity gene

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