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

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

R620W polymorphism of protein tyrosine phosphatase PTPN22 in Egyptian children and adolescents with systemic lupus erythematosus: relation to thyroid autoimmunity

2013 ◽  
Vol 25 (2) ◽  
pp. 143-149 ◽  
Author(s):  
Rasha Tarif Hamza ◽  
Khaled S. Awwad ◽  
Khaled A. Temsah ◽  
Amira I. Hamed
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Protein Tyrosine Phosphatase ◽  
Lupus Erythematosus ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Thyroid Dysfunction ◽  
Tyrosine Phosphatase ◽  
Systemic Lupus ◽  
Protein Tyrosine ◽  
Autoimmune Thyroid

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.

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

Lupus ◽  
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.

scholarly journals Serum immunoglobulin a deficiency and autoimmune comorbidities: a crossectional study in 281 patients with systemic lupus erythematosus

2020 ◽  
Vol 66 (6) ◽  
pp. 752-756
Author(s):  
Gustavo Felício Alexandroni Linzmeyer ◽  
Fabiane Karen Miyake ◽  
Thiago Alberto F. C. Gomes Dos Santos ◽  
Thelma L Skare
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Autoimmune Disease ◽  
Autoimmune Diseases ◽  
Clinical Data ◽  
Lupus Erythematosus ◽  
Immunoglobulin A ◽  
Hashimoto Thyroiditis ◽  
Iga Deficiency ◽  
Systemic Lupus ◽  
High Prevalence

SUMMARY OBJECTIVE To study the profile of associated autoimmune diseases in a series of patients with systemic lupus erythematosus (SLE) and see if such associations are linked to IgA deficiency. METHODS Two hundred eighty-one patients with SLE were studied for Ig A levels by nephelometry. Levels equal to or under 0.05g/dL were considered as IgA deficiency. Epidemiological and clinical data, including the presence of associated autoimmune diseases, were extracted from the patient’s charts. RESULTS Ig A deficiency was found in 6% of the patients. In 30.2% of SLE patients, there was at least one more autoimmune disease; Hashimoto thyroiditis and Sjögren’s syndrome were the most common. No association between the occurrence of associated autoimmune disease with IgA deficiency was found. CONCLUSIONS There is a high prevalence of autoimmune diseases associated with SLE. IgA deficiency does not affect the presence of these associations.

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