No independent role of the −1123 G &gt; C and + 2740 A &gt; G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations

Cinek, Ondřej; Hradský, Ondřej; Ahmedov, Gunduz; Slavčev, Antonij; Koloušková, Stanislava; Kulich, Michal; Šumnı́k, Zdenĕk

doi:10.1016/j.diabres.2006.09.009

Cited by 58 publications

(49 citation statements)

References 10 publications

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“…Viken et al (31) and Hinks et al (32) investigated the association of PTPN22 1858 C > T polymorphism with JIA, and both of them found a significant association between the polymorphism and disease. In accordance with our results, Pazar et al (33), Seldin et al (34), and Cinek et al (35) did not find any association between PTPN22 1858 C > T polymorphism and JIA. The contradictory data reported in these studies may be due to several factors such as ethnicity, combinations of susceptibility variants, small sample sizes, or variety of environmental factors.…”

Section: Discussionsupporting

confidence: 82%

TNF-alpha 863C > A promoter and TNFRII 196T > G exonic variationsmay be risk factors for juvenile idiopathic arthritis

Batar¹,

Özman²,

Barut³

et al. 2017

Turk J Med Sci

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Background/aim: Juvenile idiopathic arthritis (JIA) is a chronic complex autoimmune disease. Genetic and environmental factors increase the risk of JIA. It is accepted that alterations in immune system pathways play an important role in the pathogenesis of JIA. The aim of the study was to investigate the possible association between immune system regulatory gene polymorphisms and JIA in Turkish patients.

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Section: Discussionsupporting

confidence: 82%

TNF-alpha 863C > A promoter and TNFRII 196T > G exonic variationsmay be risk factors for juvenile idiopathic arthritis

Batar¹,

Özman²,

Barut³

et al. 2017

Turk J Med Sci

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“…We found no evidence of genetic interaction of PTPN22 risk with HLA-DR3/DR4 and INS risks, as reported in other studies (19,20). Our haplotype study did not find evidence for the role or additional SNPs that may have an independent contribution in rheumatoid arthritis (13) or in Japanese type 1 diabetic patients (14) and supports that C1858T is the major risk determinant at PTPN22 for type 1 diabetes, consistent with recent studies (21,22). Our finding of an increased association of 1858T allele in type 1 diabetic patients who have a family history of other autoimmune diseases supports the concept that this allele confers a general susceptibility to some autoimmune diseases, which are known to occur with increased frequency in type 1 diabetic patients, such as rheumatoid arthritis and autoimmune thyroid disease.…”

Section: Discussionsupporting

confidence: 81%

PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits

et al. 2007

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The PTPN22 gene, encoding the lymphoid-specific protein tyrosine phosphatase, a negative regulator in the T-cell activation and development, has been associated with the susceptibility to several autoimmune diseases, including type 1 diabetes. Based on combined case-control and family-based association studies, we replicated the finding of an association of the PTPN22 C1858T (R620W) functional variant with type 1 diabetes, which was independent from the susceptibility status at the insulin gene and at HLA-DR (DR3/4 compared with others). The risk contributed by the 1858T allele was increased in patients with a family history of other autoimmune diseases, further supporting a general role for this variant on autoimmunity. In addition, we found evidence for an association of 1858T allele with the presence of GAD autoantibodies (GADA), which was restricted to patients with long disease duration (>10 years, P < 0.001). This may help define a subgroup of patients with long-term persistence of GADA. The risk conferred by 1858T allele on GAD positivity was additive, and our meta-analysis also supported an additive rather than dominant effect of this variant on type 1 diabetes, similar to previous reports on rheumatoid arthritis and systemic lupus erythematosus. Diabetes 56:522-526, 2007

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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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No independent role of the −1123 G > C and + 2740 A > G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations

Cited by 58 publications

References 10 publications

TNF-alpha 863C > A promoter and TNFRII 196T > G exonic variationsmay be risk factors for juvenile idiopathic arthritis

TNF-alpha 863C > A promoter and TNFRII 196T > G exonic variationsmay be risk factors for juvenile idiopathic arthritis

PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits

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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