The importance of thrombotic risk factors in the development of idiopathic sudden hearing loss

Zuleyha Yildiz1, Arzu Ulu, Armagan Incesulu

  • 1Department of Pediatric Molecular Genetics, Medical School of Ankara University, Ankara, Turkey.

Insights

Genetic factors influencing blood circulation, such as MTHFR 677 C-T, may play a role in sudden hearing loss. This study investigated several genetic mutations in patients with idiopathic sudden sensorineural hearing loss.

Area of Science:

  • Genetics
  • Otolaryngology
  • Cardiovascular Research

Background:

  • Impaired cochlear blood circulation is a suspected cause of sudden hearing loss.
  • Several genetic mutations affecting blood coagulation and circulation have been implicated in various vascular conditions.

Purpose of the Study:

  • To investigate the association between specific genetic polymorphisms and idiopathic sudden sensorineural hearing loss (ISSNHL).
  • To assess the frequency of factor V 1691 G-A, prothrombin 20210 G-A, MTHFR 677 C-T, factor V 4070 A-G, EPCR gene 23-bp insertion, and PAI-1 4G/5G mutations in ISSNHL patients.

Main Methods:

  • A case-control study was conducted with 53 ISSNHL patients and 80 healthy controls.
  • Genotyping was performed for the following mutations: FV 1691 G-A, PT 20210 G-A, MTHFR 677 C-T, FV 4070 A-G, EPCR 23-bp insertion, and PAI-1 4G/5G.

Main Results:

  • The MTHFR 677 C-T polymorphism was significantly more frequent in the patient group (P = .03).
  • Frequencies for FV 1691 G-A, PT 20210 G-A, and FV 4070 A-G showed no significant differences between groups.
  • PAI-1 4G/5G polymorphism frequencies were similar in both groups. EPCR 23-bp insertion was found in 3.7% of patients and 0% of controls.

Conclusions:

  • The MTHFR 677 C-T gene mutation may be a risk factor for idiopathic sudden sensorineural hearing loss.
  • Further research is needed to explore the role of EPCR gene insertion in ISSNHL.

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