Chi-Jung Huang1,2,3, Tan-Kuai Wan4, Te-Yung Fang4,5, Pa-Chun Wang4,5,6. 1. a Department of Medical Research , Cathay General Hospital , Taipei , Taiwan. 2. b Department of Biochemistry , National Defense Medical Center , Taipei , Taiwan. 3. c Ph.D. Program in Pharmaceutical Biotechnology, College of Medicine, Fu Jen Catholic University , New Taipei , Taiwan. 4. d Department of Otolaryngology , Cathay General Hospital , Taipei , Taiwan. 5. e School of Medicine, Fu Jen Catholic University , New Taipei City , Taiwan. 6. f Department of Medical Research, China Medical University Hospital , China Medical University , Taichung , Taiwan.
Abstract
BACKGROUND: Ménière's disease (MD) is a disorder of the inner ear, causing episodes of vertigo. Although surgery is reserved for intractable MD, intratympanic gentamicin (ITG) injection has become an alternative for controlling vertigo. AIMS/ OBJECTIVES: To investigate the genetic basis of ITG efficacy. MATERIAL AND METHODS: We hypothesized that single nucleotide polymorphisms (SNPs) affect outcomes in patients with MD who receive ITG injections. Whole-exome sequencing was used to determine variations in coding regions. RESULTS: Multivariate analysis revealed two SNPs, rs1052571 in caspase 9 (CASP9; p = .017) and rs3745274 in cytochrome P450 2B6 (p = .053), which were associated with susceptibility to ITG injections. Only the C-allele in the rs1052571 SNP was significantly associated with susceptibility (p = .027; odds ratio: 5.95; 95% confidence interval: 1.26-28.57, by Fisher's exact test). CONCLUSIONS AND SIGNIFICANCE: Our results elucidated the role of the rs1052571 SNP and provide a genetic perspective on gentamicin efficacy (susceptibility) in treating intractable MD.
BACKGROUND: Ménière's disease (MD) is a disorder of the inner ear, causing episodes of vertigo. Although surgery is reserved for intractable MD, intratympanic gentamicin (ITG) injection has become an alternative for controlling vertigo. AIMS/ OBJECTIVES: To investigate the genetic basis of ITG efficacy. MATERIAL AND METHODS: We hypothesized that single nucleotide polymorphisms (SNPs) affect outcomes in patients with MD who receive ITG injections. Whole-exome sequencing was used to determine variations in coding regions. RESULTS: Multivariate analysis revealed two SNPs, rs1052571 in caspase 9 (CASP9; p = .017) and rs3745274 in cytochrome P450 2B6 (p = .053), which were associated with susceptibility to ITG injections. Only the C-allele in the rs1052571 SNP was significantly associated with susceptibility (p = .027; odds ratio: 5.95; 95% confidence interval: 1.26-28.57, by Fisher's exact test). CONCLUSIONS AND SIGNIFICANCE: Our results elucidated the role of the rs1052571 SNP and provide a genetic perspective on gentamicin efficacy (susceptibility) in treating intractable MD.