The 1858T PTPN22 gene variant contributes to a genetic risk of type 1 diabetes in a Ukrainian population

Fedetz, Marı́a; Matesanz, Fuencisla; Caro‐Maldonado, Alfredo; Smirnov, Ivan; Chvorostinka, V. N.; Moiseenko, T. A.; Alcina, Antonio

doi:10.1111/j.1399-0039.2006.00591.x

Cited by 33 publications

(28 citation statements)

References 21 publications

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“…Our results are consistent with the finding observed in Dutch population [22] and not consistent with findings obtained in Ukrainian [23] and German [24] population.…”

supporting

confidence: 82%

Association of TNF-α and PTPN22 SNPs with the risk and clinical outcome of type 1 diabetes

2013

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Type 1 Diabetes mellitus (T1DM) begins with aberrant inflammatory process followed by auto-destruction in genetically susceptible individuals. Therefore, we hypothesized that gain-of-function allelic variants TNF-α-238A, -308A and PTPN22 1858T could be associated not only with T1DM development but also with the clinical outcome in patients of Bosnia and Herzegovina. A total of 402 subjects were enrolled in the association study. SNPs were determined by PCR-RFLP. Data was analyzed by GraphPad Prism and Sigma Stat 3.5 software. Genotypes frequencies at TNF-α-238 and -308 loci were not statistically different between patients and controls. In contrast, distribution of genotypes at the 1858 position of PTPN22 was significantly different, due to higher frequency of gain-of-function gene variants in patients than controls. Moreover, long term glucose regulation (based on HbA1c level) was significantly worse in patients with the risk TNF-α-308A allele than in patients with non-risk (G) allele. However, patients with the risk allele of both genes (TNF-α-308A and PTPN22 1858T) had the worst glycemic control, suggesting that those two work synergistically. In conclusion, in a cohort from Bosnia and Herzegovina TNF-α-308A allele is significantly associated with the worse long-term glucose control, but PTPN22 1858T allele is significantly associated with diabetes development.

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“…Our results are consistent with the finding observed in Dutch population [22] and not consistent with findings obtained in Ukrainian [23] and German [24] population.…”

supporting

confidence: 82%

Association of TNF-α and PTPN22 SNPs with the risk and clinical outcome of type 1 diabetes

2013

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“…In brief, European populations or populations of European descent showed a higher frequency than other populations, and the frequency in northern Europe was higher than in the south. 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.…”

Section: Frequency Of the Ptpn22 Minor Allelementioning

confidence: 98%

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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“…However, after reading the full articles and contacting the authors, we excluded three meta-analysis studies (Lee et al, 2007;Peng et al, 2012;Tang et al, 2012), one study that had only case data (Maier et al, 2006), one duplicate study , four familybased research studies (Ladner et al, 2005;Qu et al, 2005;Onengut-Gumuscu et al, 2006;Steck, Baschal et al, 2009), and seven studies (Aarnisalo et al, 2008;Bjornvold et al, 2008;Zoledziewska et al, 2008;Lempainen et al, 2009;Steck, Zhang et al, 2009;Maziarz et al, 2010;Plagnol et al, 2011) in which information could not be obtained after authors were contacted. Finally, 28 studies (30 cohorts) (Bottini et al, 2004;Smyth et al, 2004;Gomez et al, 2005;Kahles et al, 2005;Zheng & She, 2005;Zhernakova et al, 2005;Fedetz et al, 2006;Hermann et al, 2006;Steck et al, 2006;Chelala et al, 2007;Cinek et al, 2007;Nielsen et al, 2007;Santiago et al, 2007;Baniasadi & Das, 2008;Cervin et al, 2008;Douroudis et al, 2008;Petrone et al, 2008;Saccucci et al, 2008;Dultz et al, 2009;Korolija et al, 2009;Chagastelles et al, 2010;Fichna et al, 2010;Klinker et al, 2010;Kordonou...…”

Section: Studies Included In the Meta-analysismentioning

confidence: 99%

PTPN22 Gene Polymorphism (C1858T) Is Associated with Susceptibility to Type 1 Diabetes: A Meta‐Analysis of 19,495 Cases and 25,341 Controls

Xuan

Liu

Zhao

et al. 2013

Annals of Human Genetics

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SummaryThe protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been reported to be associated with susceptibility to type 1 diabetes (T1D) in relatively small sample sizes. This study aimed at investigating the pooled association by carrying out a meta-analysis on the published studies. The Medline, EBSCO, and BIOSIS databases were searched to identify eligible studies published in English before June 2012. The association was assessed by odds ratio (OR) with 95% confidence intervals (CI). The presence of heterogeneity and publication bias was explored by using meta-regression analysis and Begg's test, respectively. A total of 28 studies were involved in this meta-analysis. Across all populations, significant associations were found between the PTPN22 C1858T polymorphism and susceptibility to T1D under genotypic (TT vs. CC [OR = 3.656, 95% CI: 3.139-4.257], CT vs. CC [OR = 1.968, 95% CI: 1.683-2.300]), recessive (OR = 3.147, 95% CI: 2.704-3.663), and dominant models (OR = 1.957, 95% CI: 1.817-2.108). In ethnicityand sex-stratified analyses, similar associations were found among Caucasians and within Caucasian male and female strata. The meta-analysis results suggest that the PTPN22 C1858T polymorphism was associated with susceptibility to T1D among the Caucasian population, and males who carried the -1858T allele were more susceptible to T1D than females.

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The 1858T PTPN22 gene variant contributes to a genetic risk of type 1 diabetes in a Ukrainian population

Cited by 33 publications

References 21 publications

Association of TNF-α and PTPN22 SNPs with the risk and clinical outcome of type 1 diabetes

Association of TNF-α and PTPN22 SNPs with the risk and clinical outcome of type 1 diabetes

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

PTPN22 Gene Polymorphism (C1858T) Is Associated with Susceptibility to Type 1 Diabetes: A Meta‐Analysis of 19,495 Cases and 25,341 Controls

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