Role of PTPN22 in type 1 diabetes and other autoimmune diseases

Bottini, Nunzio; Vang, Torkel; Cucca, Francesco; Mustelin, Tomas

doi:10.1016/j.smim.2006.03.008

Cited by 305 publications

(253 citation statements)

References 55 publications

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“…21 This gain of function might raise the threshold of immature thymocyte activation, leading to insufficient elimination of autoreactive clones and, in consequence, autoimmune disease. 1 Interestingly, LYP amounts in natural killer (NK) cells are higher than in T lymphocytes but LYP function in these cells is unknown. 2 Not only T lymphocytes, but also NK cells play a role in RA pathology, 22,23 although their contribution to different clinical manifestations of this disease is not known.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2007

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Section: Discussionmentioning

confidence: 99%

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

et al. 2007

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“…rs689 (−23HphI variant, a surrogate for the subdivision of VNTR into class I [A] and III [T] alleles) and rs3842755, which also allows subdivision of class III into IIIA (C) and IIIB (A) alleles [29][30][31]. The SNP rs2476601 (also denoted 1858C/T) was genotyped in the PTPN22 gene [32,33]. Genotyping was performed by an allelic discrimination method (7900HT system; Applied Biosystems, Foster City, CA, USA).…”

Section: Hla-dqb1 Genotypingmentioning

confidence: 99%

Common variants in the TCF7L2 gene help to differentiate autoimmune from non-autoimmune diabetes in young (15–34 years) but not in middle-aged (40–59 years) diabetic patients

et al. 2008

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Aims/hypothesis Type 1 diabetes in children is characterised by autoimmune destruction of pancreatic beta cells and the presence of certain risk genotypes. In adults the same situation is often referred to as latent autoimmune diabetes in adults (LADA). We tested whether genetic markers associated with type 1 or type 2 diabetes could help to discriminate between autoimmune and non-autoimmune diabetes in young (15-34 years) and middle-aged (40-59 years) diabetic patients.Methods In 1,642 young and 1,619 middle-aged patients we determined: (1) HLA-DQB1 genotypes; (2) PTPN22 and INS variable-number tandem repeat (VNTR) polymorphisms; (3) two single nucleotide polymorphisms (rs7903146 and rs10885406) in the TCF7L2 gene; (4) glutamic acid decarboxylase (GAD) and IA-2-protein tyrosine phosphatase-like protein (IA-2) antibodies; and (5) fasting plasma C-peptide. Results Frequency of risk genotypes HLA-DQB1 (60% vs 25%, p=9.4×10 −34 ; 45% vs 18%, p=1.4×10 −16 ), PTPN22 CT/TT (34% vs 26%, p=0.0023; 31% vs 23%, p=0.034), INS VNTR class I/I (69% vs 53%, p=1.3×10 −8 ; 69% vs 51%, p=8.5×10 −5 ) and INS VNTR class IIIA/IIIA (75% vs 63%, p= 4.3×10 −6 ; 73% vs 60%, p=0.008) was increased in young and middle-aged GAD antibodies (GADA)-Diabetologia

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“…5 Reciprocally, the SNP þ 1858C4T within the PTPN22 gene is positively associated with T1D, rheumatoid arthritis and Graves' disease, but not with MS. Furthermore, although the causal variant within PTPN22 has been fine-mapped 12 and its functional consequence delineated, 13,14 no All T1D and MS patients were of Sardinian origin. T1D patients were diagnosed according to standard clinical criteria whereas MS patients were diagnosed according to the McDonald criteria.…”

mentioning

confidence: 99%

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia

et al. 2008

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Variation within intron 19 of the CLEC16A (KIAA0350) gene region was recently found to be unequivocally associated with type 1 diabetes (T1D) in genome-wide association (GWA) studies in Northern European populations. A variant in intron 22 that is nearly independent of the intron 19 variant showed suggestive evidence of association with multiple sclerosis (MS). Here, we genotyped the rs725613 polymorphism, representative of the earlier reported associations with T1D within CLEC16A, in 1037 T1D cases, 1498 MS cases and 1706 matched controls, all from the founder, autoimmunity-prone Sardinian population. In these Sardinian samples, allele A of rs725613 is positively associated not only with T1D (odds ratio=1.15, P one-tail=5.1 x 10(-3)) but also, and with a comparable effect size, with MS (odds ratio=1.21, P one-tail 6.7 x 10(-5)). Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway

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Role of PTPN22 in type 1 diabetes and other autoimmune diseases

Cited by 305 publications

References 55 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

Common variants in the TCF7L2 gene help to differentiate autoimmune from non-autoimmune diabetes in young (15–34 years) but not in middle-aged (40–59 years) diabetic patients

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia

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