Altered expression of protein tyrosine phosphatase, non-receptor type 22 isoforms in systemic lupus erythematosus

Abstract Background: Some studies showed associations of the minor T allele of the C1858T single nucleotide polymorphism (SNP) corresponding to the R620W amino acid substitution of protein tyrosine phosphatase (PTPN22) with multiple autoimmune diseases, including systemic lupus erythematosus (SLE). Objectives: To study the frequency of PTPN22 R620W polymorphism among Egyptian patients with SLE and to test the association of the T allele with autoimmune thyroid disease in such patients. Methods: Clinical evaluation, measurement of thyroid hormones and antibodies, and genotyping of PTPN22 R620W polymorphism were done for 60 SLE patients and 60 age- and sex-matched healthy subjects. Results: Nineteen SLE cases (31.67%) had thyroid dysfunction with subclinical hypothyroidism being the most frequent form of thyroid dysfunction (20%) followed by primary hypothyroidism (6.67%), subclinical hyperthyroidism (3.33%) and primary hyperthyroidism (1.67%). Autoimmune thyroid disease was detected in 36.67% of cases. Systemic lupus erythematosus disease activity index (SLEDAI) score did not differ between patients with thyroid dysfunction and euthyroid patients (p=0.061) nor with the frequency of positive thyroid peroxidise antibodies (TPOAb, p=0.092) and antithyroglobulin antibodies (ATGAb, p=0.1). T allele frequency did not differ between cases and controls (p=1.19) and was associated with autoimmune thyroid disease in Egyptian SLE patients (p=0.002). Conclusions: R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE susceptibility among Egyptian SLE patients but appears to be a risk factor for concurrent autoimmune thyroid disease and SLE.

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High prevalence of protein tyrosine phosphatase non-receptor N22 gene functional variant R620W in systemic lupus erythematosus patients from Kuwait: implications for disease susceptibility

BMC Rheumatology ◽

10.1186/s41927-018-0015-x ◽

2018 ◽

Vol 2 (1) ◽

Author(s):

Adel M. Al-Awadhi ◽

Mohammad Z. Haider ◽

Jalaja Sukumaran ◽

Sowmya Balakrishnan

Keyword(s):

Systemic Lupus Erythematosus ◽

Protein Tyrosine Phosphatase ◽

Lupus Erythematosus ◽

Disease Susceptibility ◽

Tyrosine Phosphatase ◽

Systemic Lupus ◽

Protein Tyrosine ◽

High Prevalence ◽

Functional Variant

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Reduced protein tyrosine phosphatase (PTPase) activity of CD45 on peripheral blood lymphocytes in patients with systemic lupus erythematosus (SLE)

Clinical & Experimental Immunology ◽

10.1046/j.1365-2249.1997.4371334.x ◽

1997 ◽

Vol 109 (1) ◽

pp. 20-26 ◽

Cited By ~ 42

Author(s):

T. TAKEUCHI ◽

M. PANG ◽

K. AMANO ◽

J. KOIDE ◽

T. ABE

Keyword(s):

Systemic Lupus Erythematosus ◽

Protein Tyrosine Phosphatase ◽

Lupus Erythematosus ◽

Peripheral Blood ◽

Tyrosine Phosphatase ◽

Peripheral Blood Lymphocytes ◽

Systemic Lupus ◽

Protein Tyrosine ◽

Blood Lymphocytes ◽

Ptpase Activity

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Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: Increased t allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease

Arthritis & Rheumatism ◽

10.1002/art.21223 ◽

2005 ◽

Vol 52 (8) ◽

pp. 2396-2402 ◽

Cited By ~ 62

Author(s):

Hui Wu ◽

Rita M. Cantor ◽

Deborah S. Cunninghame Graham ◽

Cecilia M. Lingren ◽

Lisa Farwell ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Allele Frequency ◽

Association Analysis ◽

Protein Tyrosine Phosphatase ◽

Lupus Erythematosus ◽

Thyroid Disease ◽

Autoimmune Thyroid Disease ◽

Tyrosine Phosphatase ◽

Systemic Lupus ◽

Autoimmune Thyroid

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Faculty Opinions recommendation of Eph receptors are negatively controlled by protein tyrosine phosphatase receptor type O.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1032294.374313 ◽

2006 ◽

Author(s):

David Wilkinson

Keyword(s):

Protein Tyrosine Phosphatase ◽

Tyrosine Phosphatase ◽

Receptor Type ◽

Eph Receptors ◽

Protein Tyrosine

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Protein tyrosine phosphatase receptor type C (PTPRC or CD45)

Journal of Clinical Pathology ◽

10.1136/jclinpath-2020-206927 ◽

2021 ◽

pp. jclinpath-2020-206927

Author(s):

Maryam Ahmed Al Barashdi ◽

Ahlam Ali ◽

Mary Frances McMullin ◽

Ken Mills

Keyword(s):

Protein Tyrosine Phosphatase ◽

Protein Tyrosine Kinase ◽

Biological Activities ◽

Tyrosine Phosphatase ◽

Cell Types ◽

Receptor Type ◽

Future Research ◽

Protein Tyrosine ◽

Type C ◽

Almost All

The leucocyte common antigen, protein tyrosine phosphatase receptor type C (PTPRC), also known as CD45, is a transmembrane glycoprotein, expressed on almost all haematopoietic cells except for mature erythrocytes, and is an essential regulator of T and B cell antigen receptor-mediated activation. Disruption of the equilibrium between protein tyrosine kinase and phosphatase activity (from CD45 and others) can result in immunodeficiency, autoimmunity, or malignancy. CD45 is normally present on the cell surface, therefore it works upstream of a large signalling network which differs between cell types, and thus the effects of CD45 on these cells are also different. However, it is becoming clear that CD45 plays an essential role in the innate immune system and this is likely to be a key area for future research. In this review of PTPRC (CD45), its structure and biological activities as well as abnormal expression of CD45 in leukaemia and lymphoma will be discussed.

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Tumor necrosis factor receptor II and PTPN22 genes polymorphisms and the risk of systemic lupus erythematosus in Egyptian children

Lupus ◽

10.1177/09612033211020359 ◽

2021 ◽

pp. 096120332110203

Author(s):

Riham Eid ◽

Ayman Hammad ◽

Maha Abdelsalam ◽

Aya Ahmed Fathy ◽

Dena M Abd-El Ghafaar ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Tumor Necrosis Factor ◽

Lupus Erythematosus ◽

Tumor Necrosis ◽

Tyrosine Phosphatase ◽

Tumor Necrosis Factor Receptor ◽

Clinical Manifestations ◽

Systemic Lupus ◽

Egyptian Children ◽

Necrosis Factor

Background Many genes have been implicated in the pathogenesis of systemic lupus erythematosus (SLE). Tumor necrosis factor (TNF) is a potent cytokine stimulator acting through 2 cell surface receptors (TNFR I and II). TNFRII gene which controls expression of these receptors has been linked to SLE susceptibility through promoting apoptosis. Also; Protein tyrosine phosphatase non receptor 22 (PTPN22) gene enhances intrinsic phosphatase activity of T lymphocytes leading to their dysregulation and stimulates autoimmune process of lupus and its rs2476601 has been linked to susceptibility to thyroiditis in SLE patients in few studies. Objectives (i) to investigate the correlation between 2 SNPs of TNFR II and PTPN22 genes and SLE susceptibility in a cohort of Egyptian children compared to controls (ii) and to investigate their possible association with different clinical presentations of the disease in children. Subjects and methods Typing of TNFR II rs1061622 and PTPN22 rs2476601 SNPs were done using polymerase chain reaction-restriction fragment length polymorphism for 74 children with SLE and 100 matched healthy controls. Results Children with SLE had more frequent G allele and GG genotype of TNFR II rs1061622 ( p < 0.001) and more T allele and TT genotype of PTPN22 rs2476601 ( p = 0.012 and <0.001, respectively) compared to controls. Only 6 patients (8%) had thyroiditis (hypothyroidism) with T allele and TT genotype of PTPN22 1858 T more prevalent in those patients versus those without thyroiditis ( p ≤ 0.001). Apart from, thyroiditis, no significant association was found between genotypes and alleles frequencies of the 2 studied SNPs and other clinical manifestations of the disease. Conclusion The G allele and GG genotype of TNFR II rs1061622 and T allele and TT genotype of PTPN22 rs2476601 genes polymorphism can be considered as risk factors for the development of SLE. The presence of the T allele of PTPN22 rs2476601 may increase the risk of concomitant thyroiditis in Egyptian children with SLE but further studies are required to confirm this finding as thyroiditis was reported only in few cases in this study.

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