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

doi:10.1016/j.ygeno.2016.11.002

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

Otolaryngology

Research output: Contribution to journal › Article › peer-review

13 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 language	English (US)
Pages (from-to)	201-208
Number of pages	8
Journal	Genomics
Volume	108
Issue number	5-6
DOIs	https://doi.org/10.1016/j.ygeno.2016.11.002
State	Published - Dec 1 2016

Bibliographical note

Funding 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.

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

Publisher Copyright:
© 2016 Elsevier Inc.

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ygeno.2016.11.002

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Nair, T. S., Kommareddi, P. K., Galano, M. M., Miller, D. M., Kakaraparthi, B. N., Telian, S. A., Arts, H. A., El-Kashlan, H., Kilijanczyk, A., Lassig, A. A. D., Graham, M. P., Fisher, S. G., Stoll, S. W., Nair, R. P., Elder, J. T., & Carey, T. E. (2016). SLC44A2 single nucleotide polymorphisms, isoforms, and expression: Association with severity of Meniere's disease? Genomics, 108(5-6), 201-208. https://doi.org/10.1016/j.ygeno.2016.11.002

Nair, TS, Kommareddi, PK, Galano, MM, Miller, DM, Kakaraparthi, BN, Telian, SA, Arts, HA, El-Kashlan, H, Kilijanczyk, A, Lassig, AAD, Graham, MP, Fisher, SG, Stoll, SW, Nair, RP, Elder, JT & Carey, TE 2016, 'SLC44A2 single nucleotide polymorphisms, isoforms, and expression: Association with severity of Meniere's disease?', Genomics, vol. 108, no. 5-6, pp. 201-208. https://doi.org/10.1016/j.ygeno.2016.11.002

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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.",

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AU - Miller, Danielle M.

AU - Kakaraparthi, Bala Naveen

AU - Telian, Steven A.

AU - Arts, H. Alex

AU - El-Kashlan, Hussam

AU - Kilijanczyk, Alyse

AU - Lassig, Amy Anne D

AU - Graham, Martin P.

AU - Fisher, Susan G.

AU - Stoll, Stefan W.

AU - Nair, Rajan P.

AU - Elder, James T.

AU - Carey, Thomas E.

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

Abstract

Bibliographical note

Keywords

UN SDGs

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