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

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Nair TS, Kommareddi PK, Galano MM, Miller DM, Kakaraparthi BN, Telian SA, Arts HA, El-Kashlan H, Kilijanczyk A, Lassig AA, Graham MP, Fisher SG, Stoll SW, Nair RP, Elder JT, Carey TE

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

Genomics. 2016 Dec;108(5-6):201-208. doi: 10.1016/j.ygeno.2016.11.002. Epub 2016 Nov 6.

PubMed ID

27829169 [ View in PubMed

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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.

DrugBank Data that Cites this Article

Drug Transporters

Drug	Transporter	Kind	Organism	Pharmacological Action	Actions
Choline	Choline transporter-like protein 2	Protein	Humans	Unknown	Substrate	Details