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Association of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere's disease
Author(s) -
LopezEscamez Jose A.,
SaenzLopez Pablo,
Acosta Lourdes,
Moreno Antonia,
Gazquez Irene,
PerezGarrigues Herminio,
LopezNevot Alicia,
LopezNevot Miguel A.
Publication year - 2010
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1002/lary.20650
Subject(s) - ptpn22 , single nucleotide polymorphism , medicine , odds ratio , genotype , snp , genotype frequency , gastroenterology , genetics , biology , gene
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 χ 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. Laryngoscope, 2010