PTPN22/LYP 1858C&gt;T gene polymorphism and susceptibility to endometriosis in a Polish population

Płoski, Rafał; Dziunycz, Piotr; Kostrzewa, Grażyna; Roszkowski, Piotr I.; Barcz, Ewa; Ząbek, Jakub; Milewski, Łukasz; Kamiński, Paweł; Malejczyk, Jacek

doi:10.1016/j.jri.2008.11.004

Cited by 18 publications

(16 citation statements)

References 25 publications

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“…Table 2 summarizes the quantitative features of the ten genotyping studies (443 cases/1,181 controls) in the meta-analysis that examined associations of the PTPN22 (C1858T) polymorphism with endometriosis. Eight studies from two articles 13,16 had Italian subjects (132 cases/528 controls), while one study had Brazilian subjects 15 and another had Polish participants, 14 with 140 cases/180 controls and 171 cases/310 controls, respectively.…”

Section: Resultsmentioning

confidence: 99%

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Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis

Pabalan¹,

Jarjanazi

Christofolini

et al. 2017

Einstein (São Paulo)

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Objective To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis.Methods A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. We estimated risk (odds ratio and 95% confidence intervals) of endometriosis associations with the C1858T polymorphism.Results A significant increased risk in all genetic models of the variant T allele with endometriosis (odds ratio: 3.14-5.55; p<0.00001-0.002) was found. The analysis without the study whose controls deviated from the Hardy-Weinberg equilibrium exacerbated these effects in the homozygous and recessive models (odds ratio: 7.19-9.45; p<0.00001-0.0002). In the Italian subgroup, a significant risk association was found in the homozygous and recessive models (odds ratio: 8.72-11.12; p=0.002).Conclusion The associations observed between PTPN22 (C1858T) and the risk of endometriosis suggest this polymorphism might be a useful susceptibility marker for this disease.

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Section: Resultsmentioning

confidence: 99%

“…13-16 Ammendola et al 13 and Gloria-Bottini et al 16 provided two and six sets of genotypic datasets, respectively, and were considered two and six studies, respectively. Added to the two articles 14,15 with singular datasets, the final number of studies included in the meta-analysis was ten.…”

Section: Methodsmentioning

confidence: 99%

Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis

Pabalan¹,

Jarjanazi

Christofolini

et al. 2017

Einstein (São Paulo)

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“…Associations were observed in Italian and Brazilian populations (39,40), whereas no association was found in a Polish population (41). This discrepancy is most likely the result of relatively small study populations.…”

mentioning

confidence: 77%

Endometriosis and autoimmune disease: association of susceptibility to moderate/severe endometriosis with CCL21 and HLA-DRB1

Sundqvist

Falconer

Seddighzadeh

et al. 2011

Fertility and Sterility

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“…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.…”

Section: Frequency Of the Ptpn22 Minor Allelementioning

confidence: 99%

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

et al. 2012

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Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a strong susceptibility gene shared by many autoimmune diseases. The aim of this study was to explore the mechanisms underlying this relationship. We performed a comprehensive analysis of the association between PTPN22 polymorphism C1858T and autoimmune diseases. The results showed a remarkable pattern; PTPN22 C1858T was strongly associated with type I diabetes, rheumatoid arthritis, immune thrombocytopenia, generalized vitiligo with concomitant autoimmune diseases, idiopathic inflammatory myopathies, Graves' disease, juvenile idiopathic arthritis, myasthenia gravis, systemic lupus erythematosus, anti-neutrophil cytoplasmic antibody-associated vasculitis and Addison's disease. By contrast, PTPN22 C1858T showed a negligible association with systemic sclerosis, celiac disease, multiple sclerosis, psoriasis, ankylosing spondylitis, pemphigus vulgaris, ulcerative colitis, primary sclerosing cholangitis, primary biliary cirrhosis, Crohn's disease and acute anterior uveitis. Further analysis revealed a clear distinction between the two groups of diseases with regard to their targeted tissues: most autoimmune diseases showing an insignificant association with PTPN22 C1858T manifest in skin, the gastrointestinal tract or in immune privileged sites. These results showed that the association of PTPN22 polymorphism with autoimmune diseases depends on the localization of the affected tissue, suggesting a role of targeted organ variation in the disease manifestations.

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PTPN22/LYP 1858C>T gene polymorphism and susceptibility to endometriosis in a Polish population

Cited by 18 publications

References 25 publications

Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis

Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis

Endometriosis and autoimmune disease: association of susceptibility to moderate/severe endometriosis with CCL21 and HLA-DRB1

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

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