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 chi(2) 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.
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 chi(2) test with Fisher exact test. RESULTS: No association was found between the +49A/GCTLA4 genotype and BMDpatients. However, the heterozygote PTPN221858C/T genotype was present at a significantly higher frequency in BMDpatients than in controls (odds ratio = 2.25, 95% confidence interval: 1.09-4.62; P = .04). CONCLUSIONS: These results suggest that the PTPN221858C/T genotype may confer differential susceptibility to BMD in the Spanish population and support an autoimmune etiology for BMD.
Authors: Teresa Requena; Irene Gazquez; Antonia Moreno; Angel Batuecas; Ismael Aran; Andres Soto-Varela; Sofia Santos-Perez; Nicolas Perez; Herminio Perez-Garrigues; Alicia Lopez-Nevot; Eduardo Martin; Ricardo Sanz; Paz Perez; Gabriel Trinidad; Marta E Alarcon-Riquelme; Roberto Teggi; Laura Zagato; Miguel A Lopez-Nevot; Jose A Lopez-Escamez Journal: Immunogenetics Date: 2013-02-01 Impact factor: 2.846
Authors: Irene Gázquez; Antonia Moreno; Teresa Requena; Jeff Ohmen; Sofia Santos-Perez; Ismael Aran; Andres Soto-Varela; Herminio Pérez-Garrigues; Alicia López-Nevot; Angel Batuecas; Rick A Friedman; Miguel A López-Nevot; Jose A López-Escamez Journal: Eur Arch Otorhinolaryngol Date: 2012-11-21 Impact factor: 2.503
Authors: José A Lopez-Escamez; Pablo Saenz-Lopez; Irene Gazquez; Antonia Moreno; Carlos Gonzalez-Oller; Andrés Soto-Varela; Sofía Santos; Ismael Aran; Herminio Perez-Garrigues; Agueda Ibañez; Miguel A Lopez-Nevot Journal: BMC Med Genet Date: 2011-01-05 Impact factor: 2.103
Authors: Irene Gazquez; Andres Soto-Varela; Ismael Aran; Sofia Santos; Angel Batuecas; Gabriel Trinidad; Herminio Perez-Garrigues; Carlos Gonzalez-Oller; Lourdes Acosta; Jose A Lopez-Escamez Journal: PLoS One Date: 2011-10-28 Impact factor: 3.240