R620W polymorphism of protein tyrosine phosphatase PTPN22 in Egyptian children and adolescents with systemic lupus erythematosus: relation to thyroid autoimmunity
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Rasha Tarif Hamza
,
Khaled S. Awwad
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.
Competing interests: The authors declare that there was no financial support and there are no conflicts of interest in the submitted manuscript.
Authors’ contributions: RTH has made substantial contributions to conception and design, or acquisition of data, or analysis and interpretation of data, has been involved in drafting the manuscript and revised the manuscript critically for important intellectual content. KSA has been involved in general supervision of research group and has given final approval of the version to be published. KAT has participated in the study design and coordination, collection of cases and helped to draft the manuscript. AIH carried out the laboratory part of the study and performed the statistical analysis.
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©2013 by Walter de Gruyter Berlin Boston
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Artikel in diesem Heft
- Masthead
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- Editorial
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- Review
- Detached, distraught or discerning? Fathers of adolescents with chronic illness: a review of the literature
- Original Articles
- Perception of transition readiness and preferences for use of technology in transition programs: teens’ ideas for the future
- Adaptation of an internet-based depression prevention intervention for Chinese adolescents: from “CATCH-IT” to “grasp the opportunity”
- Smaller pelvic size in pregnant adolescents contributes to lower birth weight
- R620W polymorphism of protein tyrosine phosphatase PTPN22 in Egyptian children and adolescents with systemic lupus erythematosus: relation to thyroid autoimmunity
- Motivational stage of change in young patients undergoing day treatment for eating disorders
- Leveraging microfinance to impact HIV and financial behaviors among adolescents and their mothers in West Bengal: a cluster randomized trial
- Patterns of contraception choice among Hispanic and non-Hispanic female adolescents
- Translation of children’s cycling into steps: the share of cycling in 10-year-olds’ physical activity
- Weight gain in an eating disorders day program
- Case Report
- Weight loss as a result of religious zeal in young Orthodox Jewish males
