High prevalence of protein tyrosine phosphatase non-receptor N22 gene functional variant R620W in systemic lupus erythematosus patients from Kuwait: implications for disease susceptibility
| العنوان: | High prevalence of protein tyrosine phosphatase non-receptor N22 gene functional variant R620W in systemic lupus erythematosus patients from Kuwait: implications for disease susceptibility |
|---|---|
| المؤلفون: | Adel Al-Awadhi, Jalaja Sukumaran, Mohammad Z. Haider, Sowmya Balakrishnan |
| المصدر: | BMC Rheumatology, Vol 2, Iss 1, Pp 1-6 (2018) BMC rheumatology |
| بيانات النشر: | BMC, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | medicine.medical_specialty, lcsh:Diseases of the musculoskeletal system, Protein tyrosine phosphatase non receptor-22, Sequence analysis, business.industry, Phosphatase, Protein tyrosine phosphatase, Gene, Rheumatology, PTPN22, Systemic lupus erythematosus, Kuwait, immune system diseases, Internal medicine, Immunology, Genotype, Functional variant, Medicine, lcsh:RC925-935, business, Receptor, skin and connective tissue diseases, Research Article |
| الوصف: | Background Systemic lupus erythematosus (SLE) is an autoimmune inflammatory disease which involves the loss of self-tolerance with hyperactivation of autoreactive T- and B-cells. Protein tyrosine phosphatase non-receptor type 22 (PTPN22) encodes for lymphoid specific phosphatase (LYP) which is a key negative regulator of T lymphocyte activation. The aim of this study was to investigate the association between PTPN22 gene functional variant R620W and systemic lupus erythematosus (SLE) by comparing its prevalence in Kuwaiti SLE patients and controls. Methods The study included 134 SLE patients and 214 controls from Kuwait. The genotypes of PTPN22 gene functional variant R620W were determined by PCR-RFLP and confirmed by DNA sequence analysis in both SLE patients and the controls. Results A relatively high prevalence of the variant 620 W (T-allele) of the PTPN22 gene was detected in the SLE patients from Kuwait. 35.7% of the SLE patients had at least one variant allele (T-allele) compared to 15.9% in the controls. A statistically significant difference was detected in the frequency of variant genotypes, TT and CT between SLE patients and the controls (p |
| اللغة: | English |
| تدمد: | 2520-1026 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fab3f96b6ff39dc2eca19d5c54ef7d92 http://link.springer.com/article/10.1186/s41927-018-0015-x |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....fab3f96b6ff39dc2eca19d5c54ef7d92 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 25201026 |
|---|