SLC44A2 single nucleotide polymorphisms, isoforms, and expression: Association with severity of Meniere's disease?

Thankam S. Nair, Pavan K. Kommareddi, Maria M. Galano, Danielle M. Miller, Bala Naveen Kakaraparthi, Steven A. Telian, H. Alex Arts, Hussam El-Kashlan, Alyse Kilijanczyk, Amy Anne D Lassig, Martin P. Graham, Susan G. Fisher, Stefan W. Stoll, Rajan P. Nair, James T. Elder, Thomas E. Carey

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

SLC44A2 was discovered as the target of an antibody that causes hearing loss. Knockout mice develop age related hearing loss, loss of sensory cells and spiral ganglion neurons. SLC44A2 has polymorphic sites implicated in human disease. Transfusion related acute lung injury (TRALI) is linked to rs2288904 and genome wide association studies link rs2288904 and rs9797861 to venous thromboembolism (VTE), coronary artery disease and stroke. Here we report linkage disequilibrium of rs2288904 with rs3087969 and the association of these SLC44A2 SNPs with Meniere's disease severity. Tissue-specific isoform expression differences suggest that the N-terminal domain is linked to different functions in different cell types. Heterozygosity at rs2288904 CGA/CAA and rs3087969 GAT/GAC showed a trend for association with intractable Meniere's disease compared to less severe disease and to controls. The association of SLC44A2 SNPs with VTE suggests that thrombi affecting cochlear vessels could be a factor in Meniere's disease.

Original languageEnglish (US)
Pages (from-to)201-208
Number of pages8
JournalGenomics
Volume108
Issue number5-6
DOIs
StatePublished - Dec 1 2016

Bibliographical note

Funding Information:
Supported by the Townsend Fund, NIH R01 DC03686 , T32 DC00011 , P30 AR048310 and P30 DC05188 .

Keywords

  • Amino acid polymorphisms
  • Choline transporter-like protein 2: solute carrier protein 44A2
  • DNA sequence differences
  • Hearing
  • Human gene expression
  • Meniere's disease
  • Vestibular tissue

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