Atherosclerosis and PTPN22: A Study in Coronary Artery Disease

Saccucci, Patrizia; Banci, Maria; Cozzoli, E.; Neri, Anna; Magrini, Andrea; Bottini, E.; Gloria‐Bottini, F.

doi:10.1159/000329919

Cited by 9 publications

(8 citation statements)

References 21 publications

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“…The p53 codon 72 genotype was determined by DNA analysis using the method of De La Calle-Martin et al [9] in 128 nondiabetic subjects with CAD and 122 healthy blood donors considered in a previous study [1] and in 117 nondiabetic subjects admitted to hospital for cardiovascular disease without CAD. Informed written consent was obtained from all subjects prior to participation in this study, and the research protocol was approved by the ethical committee of the hospital.…”

Section: Methodsmentioning

confidence: 99%

“…In a recent paper, we reported an association between the PTPN22 genetic polymorphism and coronary artery disease (CAD) in nondiabetic subjects [1]. The proportion of carriers of the *T allele of PTPN22 is significantly higher among CAD cases than in healthy controls [1].…”

Section: Introductionmentioning

confidence: 99%

“…The proportion of carriers of the *T allele of PTPN22 is significantly higher among CAD cases than in healthy controls [1]. CAD is a multifactorial disease and it is likely that in addition to environmental influences, many genetic factors contribute to the predisposition to this disease.…”

Section: Introductionmentioning

confidence: 99%

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Coronary Artery Disease: Evidence of Interaction between PTPN22 and p53 Genetic Polymorphisms

Saccucci

Banci²,

Amante³

et al. 2011

Cardiology

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Objectives: We recently reported an association between the PTPN22 genetic polymorphism and coronary artery disease (CAD) in nondiabetic subjects. Since recent studies suggest that p53 may be involved in coronary atherosclerosis, we have investigated a possible interaction between PTPN22 and p53 codon 72 genetic polymorphisms regarding their effects on susceptibility to CAD in nondiabetic subjects. Methods: The genotypes of p53 codon 72 and PTPN22 were determined by DNA analysis in 128 nondiabetic subjects with CAD, 122 healthy blood donors and 117 nondiabetic subjects with cardiovascular diseases without CAD. Results: In subjects with the *Arg/*Arg genotype of p53 codon 72, no association was observed between CAD and PTPN22. However, this association was very strong in subjects carrying the *Pro allele of p53 codon 72. Subjects carrying both the *T allele of PTPN22 and the *Pro allele of p53 were overrepresented in CAD nondiabetic cases relative to the other two groups (p = 0.001). Conclusions: Since both p53 and PTPN22 are involved in autoimmune inflammation, an interaction between the two systems appears biologically plausible. In the analysis of multifactorial disorders, the simultaneous analysis of multiple genes functionally related to diseases will provide a more productive approach than studies of single genetic factors performed from a Mendelian perspective.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Coronary Artery Disease: Evidence of Interaction between PTPN22 and p53 Genetic Polymorphisms

Saccucci

Banci²,

Amante³

et al. 2011

Cardiology

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“…In addition to the three genes studied in this work, there are other phosphatase related genes implicated in CAD, for instance, the polymorphisms of phosphatase and tensin homologue ( PTEN ) gene are significantly associated with atherosclerotic cerebral infarction (ACI) in the Chinese population [42]. Genetic polymorphisms of the protein tyrosine phosphatase non-receptor 22 (PTPN22) are reported to be involved in atherosclerosis and played a role in the immune response involved in the pathogenesis of CAD [43,44]. The polymorphism of protein tyrosine phosphatase 1B (PTP1B) is associated with a decreased risk of CAD in the Han Chinese population [45], and the phosphodiesterase-1 (PC-1) variant was reported to be associated with metabolic syndrome in patients with CAD [46].…”

Section: Discussionmentioning

confidence: 99%

Association between Phosphatase Related Gene Variants and Coronary Artery Disease: Case-Control Study and Meta-Analysis

Han

Zhang

et al. 2014

IJMS

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Recent studies showed that the serum alkaline phosphatase is an independent predictor of the coronary artery disease (CAD). In this work, we aimed to summarize the association between three phosphatase related single nucleotide polymorphisms (rs12526453, rs11066301 and rs3828329) and the risk of CAD in Han Chinese. Our results showed that the rs3828329 of the ACP1 gene was closely related to the risk of CAD in Han Chinese (OR = 1.45, p = 0.0006). This significant association of rs3828329 with CAD was only found in the females (Additive model: OR = 1.80, p = 0.001; dominant model: OR = 1.69, p = 0.03; recessive model: OR = 1.96, p = 0.0008). Moreover, rs3828329 was likely to exert its effect in females aged 65 years and older (OR = 2.27, p = 0.001). Further meta-analyses showed that the rs12526453 of PHACTR11 gene (OR = 1.14, p < 0.0001, random-effect method) and the rs11066301 of PTPN11 gene (OR = 1.15, p < 0.0001, fixed-effects method) were associated with CAD risk in multiple populations. Our results showed that the polymorphisms rs12526453 and rs11066301 are significantly associated with the CAD risk in multiple populations. The rs3828329 of ACP1 gene is also a risk factor of CAD in Han Chinese females aged 65 years and older.

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“…Atherosclerosis (CAD) is not universally considered an autoimmune disease, and is therefore not listed. Nevertheless, CAD does have autoimmune features [376] and an association with PTPN22 [377]–[379]. The initial pathology in some MS lesions is associated with MAG loss [329], [380], [381].…”

Section: Introductionmentioning

confidence: 99%

Coherent Somatic Mutation in Autoimmune Disease

Ross

2014

PLoS ONE

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BackgroundMany aspects of autoimmune disease are not well understood, including the specificities of autoimmune targets, and patterns of co-morbidity and cross-heritability across diseases. Prior work has provided evidence that somatic mutation caused by gene conversion and deletion at segmentally duplicated loci is relevant to several diseases. Simple tandem repeat (STR) sequence is highly mutable, both somatically and in the germ-line, and somatic STR mutations are observed under inflammation.ResultsProtein-coding genes spanning STRs having markers of mutability, including germ-line variability, high total length, repeat count and/or repeat similarity, are evaluated in the context of autoimmunity. For the initiation of autoimmune disease, antigens whose autoantibodies are the first observed in a disease, termed primary autoantigens, are informative. Three primary autoantigens, thyroid peroxidase (TPO), phogrin (PTPRN2) and filaggrin (FLG), include STRs that are among the eleven longest STRs spanned by protein-coding genes. This association of primary autoantigens with long STR sequence is highly significant (). Long STRs occur within twenty genes that are associated with sixteen common autoimmune diseases and atherosclerosis. The repeat within the TTC34 gene is an outlier in terms of length and a link with systemic lupus erythematosus is proposed.ConclusionsThe results support the hypothesis that many autoimmune diseases are triggered by immune responses to proteins whose DNA sequence mutates somatically in a coherent, consistent fashion. Other autoimmune diseases may be caused by coherent somatic mutations in immune cells. The coherent somatic mutation hypothesis has the potential to be a comprehensive explanation for the initiation of many autoimmune diseases.

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Atherosclerosis and PTPN22: A Study in Coronary Artery Disease

Cited by 9 publications

References 21 publications

Coronary Artery Disease: Evidence of Interaction between PTPN22 and p53 Genetic Polymorphisms

Coronary Artery Disease: Evidence of Interaction between PTPN22 and p53 Genetic Polymorphisms

Association between Phosphatase Related Gene Variants and Coronary Artery Disease: Case-Control Study and Meta-Analysis

Coherent Somatic Mutation in Autoimmune Disease

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