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 language||English (US)|
|Number of pages||8|
|State||Published - Dec 1 2016|
Bibliographical noteFunding Information:
Support for this project was from NIH NIDCD grant (R01 DC03686, R01 DC02272); NIH NIDCD training grant T32 DC00011; The Ruth and Lynn Townsend Fund, Research Center Core Grant NIH NIDCD (P30 DC05188); NIH NIA grant P30 AR048310.
Supported by the Townsend Fund, NIH R01 DC03686 , T32 DC00011 , P30 AR048310 and P30 DC05188 .
© 2016 Elsevier Inc.
- Amino acid polymorphisms
- Choline transporter-like protein 2: solute carrier protein 44A2
- DNA sequence differences
- Human gene expression
- Meniere's disease
- Vestibular tissue