Genetic and Biohumoral Factors Involved in Menière's Disease and Their Correlation With Phenotypes

Ménière's Disease (MD) is an inner ear disorder characterized by episodic vertigo, fluctuating sensorineural hearing loss and aural fullness \[1\]; endolymphatic hydrops is commonly associated with the pathophysiology of the disorder, although current data support the hypothesis that hydrops is an epiphenomenon associated with different inner ear disorders. The frequency of familial cases has been estimated in the range between 5 and 15% and it has been hypothesized that the disorder may arise from the interplay of genetic and environmental factors. Different candidate genes have been studied, although to date genetic investigation produced no conclusive results .

Among others, considering the importance of ionic homeostasis in the inner ear for the maintenance of endocochlear potential, genetic of fluid and ionic homeostasis have been included. A mutation of KCNQ1 and KCNE1 channels, co-expressed in the inner ear and in the heart, leads to a severe sensorineural deafness and a collapse of the cochlear scala media as seen in Jervell and Lange-Nielsen syndrome.

The aim of this work was to assess the role of genetic polymorphisms located in genes involved in the regulation of ionic transport on an Italian population of patients with definite MD.

• a blood withdrawal will be obtained (Genetic), also known as Collection of phenotypes: A blood withdrawal will be obtained to assess
• blood withdrawal (Genetic): Genetics of ionic transporters and biohumoral factors related to Meniere's Disease and differences with vestibular migraine subjects

Primary outcomes

• Genetic of ionic transporters [From enrollment to the end of enrollment in december 2027]: Genomic DNA of all cases and controls was extracted from venous blood by standard methods. 36 Single Nucleotide Polymorphisms (SNPs) were genotyped using TaqMan® OpenArray™ Genotyping System (Life Technologies, Foster City, CA). All DNA samples were loaded and amplified according to the manufacturer's instructions.

Secondary outcomes

• Biohumoral factors specifically Interleukins, Endogenous Ouabain [From enrollment to the end of the study in july 2027]: Values of interleukins and endogenous ouabain is evaluated in blood sample of patients and compared with values in blood samples of a control group and in patients with vestibular migraine

Sex: All, ages: 18 Years to any, accepts healthy volunteers

Inclusion Criteria:

* Patients with definite Menière's Disease according to the criteria of the Barany Society

Exclusion Criteria:

* surgically treated before the examination or if they had undergone intratympanic therapy with steroids or gentamicin