title: Role of genetic and acquired prothrombotic risk factors in genesis of sudden sensorineural hearing loss.
abstract: The methylenetetrahydrofolate reductase C677T mutation, factor V G1691A (factor V Leiden) mutation, prothrombin G20210A mutation and 8 other laboratory values associated with increased thrombotic risk were analyzed in 40 patients with sudden sensorineural hearing loss (SSHL). The results were compared with those obtained from 120 controls not affected by SSHL. We found a statistically significant higher frequency of hyperhomocysteinemia in the SSHL group compared with controls, and that this was also associated with the presence of homozygosity for the MTHFR C677T mutation. The study results suggest that SSHL might be caused, among other factors, by a combination of these 2 variables. We suggest that this analysis of the MTHFR C677T mutation should be further investigated to establish the etiology of SSHL, and that the same analysis should be taken into account in those patients with high levels of homocysteine.
authors.affiliation: Department of Otorhinolaryngology, Audiology and Phoniatrics 'Giorgio Ferreri', University Sapienza, Rome, Italy. massimo.fusconi@libero.it
authors.forename: Massimo
authors.initials: M
authors.lastname: Fusconi
authors.forename: Antonio
authors.initials: A
authors.lastname: Chistolini
authors.forename: Noemi
authors.initials: N
authors.lastname: Angelosanto
authors.forename: Patrizia
authors.initials: P
authors.lastname: Pignoloni
authors.forename: Mario
authors.initials: M
authors.lastname: Tombolini
authors.forename: Armando
authors.initials: A
authors.lastname: De Virgilio
authors.forename: Martina
authors.initials: M
authors.lastname: Pagliarella
authors.forename: Marco
authors.initials: M
authors.lastname: de Vincentiis
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D003639:Hearing Loss, Sudden / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)