Association of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere's disease
Open Access
- 24 September 2009
- journal article
- immunology
- Published by Wiley in The Laryngoscope
- Vol. 120 (1), 103-107
- https://doi.org/10.1002/lary.20650
Abstract
Objectives/Hypothesis: Bilateral Meniere's disease (BMD) is a severe disease that usually results in bilateral severe or profound sensorineural hearing loss and chronic disequilibrium with loss of vestibular function. We examined single nucleotide polymorphisms (SNPs) in the PTPN22 and CTLA4 genes in Caucasian patients with BMD to assess the possible association between these polymorphism and the predisposition and clinical expression of this disease. Study Design: A case control study. Methods: The functional protein tyrosine phosphatase type 22 (PTPN22) SNP (rs2476601, 1858C/T) and CTLA4 SNP (rs231775, 49A/G) were analyzed in 52 patients with BMD and 348 healthy controls by a TaqMan 5′ allelic discrimination assay. Data were analyzed by a χ2 test with Fisher exact test. Results: No association was found between the +49A/G CTLA4 genotype and BMD patients. However, the heterozygote PTPN22 1858C/T genotype was present at a significantly higher frequency in BMD patients than in controls (odds ratio = 2.25, 95% confidence interval: 1.09–4.62; P = .04). Conclusions: These results suggest that the PTPN22 1858C/T genotype may confer differential susceptibility to BMD in the Spanish population and support an autoimmune etiology for BMD. Laryngoscope, 2010Keywords
Funding Information
- Instituto de Salud Carlos III (PI 07/0035)
This publication has 23 references indexed in Scilit:
- Utility of immunologic parameters in the evaluation of Meniere's diseaseActa Oto-Laryngologica, 2009
- PTPN22 Is Genetically Associated with Risk of Generalized Vitiligo, but CTLA4 Is NotJournal of Investigative Dermatology, 2008
- HLA, CTLA-4 and PTPN22: the shared genetic master-key to autoimmunity?Expert Reviews in Molecular Medicine, 2005
- CTLA4/CT60 polymorphism is not relevant in susceptibility to autoimmune inflammatory intestinal disordersHuman Immunology, 2005
- Association of a functional single‐nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosusArthritis & Rheumatism, 2005
- Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune diseaseNature, 2003
- Negative Regulation of T Cell Receptor–Lipid Raft Interaction by Cytotoxic T Lymphocyte–associated Antigen 4The Journal of Experimental Medicine, 2003
- Immunologic and Serologic Testing in Patients with Ménière's DiseaseOtology & Neurotology, 2002
- Polymorphism of the CTLA-4 Gene Is Associated with Autoimmune Hypothyroidism in the United KingdomThyroid®, 2002
- Meniere's disease: An immune complex‐mediated illness?The Laryngoscope, 1991