Association of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere's disease.
OBJECTIVE
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.


METHODS
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.
Lopez-Escamez
Jose A
JA
Otology and Neurotology Group, Departments of Research and Otolaryngology, Hospital de Poniente, Almeria, Spain. jalopeze@cajamar.es
Saenz-Lopez
Pablo
P
Acosta
Lourdes
L
Moreno
Antonia
A
Gazquez
Irene
I
Perez-Garrigues
Herminio
H
Lopez-Nevot
Alicia
A
Lopez-Nevot
Miguel A
MA
D015551:Autoimmunity; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008575:Meniere Disease / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D013030:Spain / Q000453:epidemiology
D017027:Protein Tyrosine Phosphatases