Polymorphisms in KCNE1 or KCNE3 are not associated with ménière disease in the Caucasian population

Colleen A. Campbell, Charley C. Della Santina, Nicole C. Meyer, Nancy B. Smith, Oluwaseun A. Myrie, Edwin M. Stone, Kuni Fukushima, Joseph Califano, John P. Carey, Marlan R. Hansen, Bruce J. Gantz, Lloyd B. Minor, Richard J.H. Smith

Research output: Contribution to journalArticlepeer-review


Ménière disease(MD) is a complex disorder of unknownetiology characterized by the symptom triad of vertigo, sensorineural hearing loss, and tinnitus. Its reported incidence is 1-2 per 1,000 in Caucasians and 0.03-0.37 per 1,000 in Japanese. Doi et al. [Doi et al. (2005); ORL J Otorhinolaryngol Relat Spec 67:289-293] recently reported that two single nucleotide polymorphisms (SNPs) inKCNE1 andKCNE3 are associated withMDin Japanese subjects. Consistent with this possibility, these two genes encode potassium channels that are expressed in the stria vascularis and endolymphatic sac, respectively, and their role in ion transport suggests that they may be important in inner ear homeostasis. To establish whether a similar association exists in the CaucasianMDpopulation, we sequenced the coding regions and exon-intron boundaries of both genes in 180 Caucasian persons withMDand 180 matched Caucasian controls. Neither of the two reported SNPs was significantly associated with MD when compared to the Caucasian controls (KCNE1, P=0.55; KCNE3, P=0.870). Comparison of allele frequencies between the Japanese MD population and our study population revealed no significant difference between groups (KCNE1,P=0.90;KCNE3, P=0.862), suggesting that the significant differences reported in the Japanese study arose from their control population. Six additional SNPs in both KCNE1 and KCNE3 were genotyped and none was associated with MD. Population stratification within ourMDand Caucasian control population was excluded. Our data show that SNPs in KCNE1 and KCNE3 are not associated with MD in Caucasians..

Original languageEnglish (US)
Pages (from-to)67-74
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
StatePublished - Jan 2010


  • Association study
  • KCNE1
  • KCNE3
  • Ménière disease
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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