alexa Association of P2X7R Functional Expression and Gene Polymorphisms with Systemic Lupus Erythematosus
ISSN: 2472-128X

Journal of Clinical & Medical Genomics
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Research Article

Association of P2X7R Functional Expression and Gene Polymorphisms with Systemic Lupus Erythematosus

Jin-Hui Tao1, Jiang-Ping Tang1, Mei-Yun Wang1, Hai-Feng Pan2, Rui-Xue Leng2, Yan-Feng Zou2, Dong-Qing Ye2 and Xiang-Pei Li1*
1Department of Rheumatology and Immunology, Anhui Provincial Hospital Affiliated to Anhui Medical University, No. 17 LuJiang Road, Hefei 230001, Anhui, China
2Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei 230032, Anhui, China
Corresponding Author : Xiang-Pei Li, MD
Department of Rheumatology & Immunology
Anhui Provincial Hospital Affiliated to Anhui Medical University
No. 17 LuJiang Road, Hefei 230001, Anhui, China
Tel: +861055162283475
Fax: +861055162283475
E-mail: [email protected]
Received September 29, 2015; Accepted November 02, 2015; Published November 12, 2015
Citation: Tao JH, Tang JP, Wang MY, Pan HF, Leng RX, et al. (2015) Association of P2X7R Functional Expression and Gene Polymorphisms with Systemic Lupus Erythematosus. J Clin Med Genom 3:131. doi:10.4172/2472-128X.1000131
Copyright: © 2015 Tao JH, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Abstract

Objective: To investigate P2X purinoceptor 7 (P2X7R) expression changes on peripheral blood mononuclear cell (PBMC) surfaces of systemic lupus erythematosus (SLE) patients as well as their association with serum cytokine levels and patients’ clinical features. In addition, the effects of different P2X7R single nucleotide polymorphisms (SNPs) on P2X7R expression and cytokine production were investigated. Method: Twenty-nine new-onset SLE patients and twenty-eight healthy controls were enrolled, while P2X7R expression levels of lymphocytes, CD4+ cells and CD19+ cells were analyzed by flow cytometry. Serum IL-1β, IL-6 and TNF-α levels were analyzed by ELISA and three P2X7R SNPs (1068G>A, 1096C>G and 1513A>C) were PCR genotyped in 14 SLE patients and 14 healthy controls. Results: P2X7R surface expression levels of lymphocytes, CD4+ and CD19+ cells from new-onset SLE patients were significantly higher than that of controls and significantly elevated on lymphocytes from patients with concurrent arthritis or leukopenia as well as on CD19+ cells of NP-SLE patients. Moreover, P2X7R expression levels on lymphocytes and CD19+ cells of SLE patients were positively correlated with serum TNF-α/IL-6 and TNF-α level, respectively. SLE patients with the P2X7R 1068GG genotype had significantly higher expression level ratios of TNF-α, IL-6 and IL-1β to P2X7R on lymphocytes compared to patients harboring the 1068GA genotype. Conclusion: P2X7R, as an important cell surface regulator of several key cytokines, is involved in the pathogenesis of SLE and also associated with organ injuries like arthritis, leukopenia and neuropsychiatric damage. P2X7R 1068GG maybe a SLE susceptibility genotype since it enhances cytokine secretion in SLE patients.

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