SLC44A2 Single Nucleotide Polymorphisms, Isoforms, and Expression: Association with Severity of Meniere’s Disease?
| Autor: | Alyse Kilijanczyk, James T. Elder, Thomas E. Carey, Stefan W. Stoll, Hussam K. El-Kashlan, Thankam S. Nair, Bala Naveen Kakaraparthi, Pavan K. Kommareddi, Rajan P. Nair, H. Alex Arts, Danielle M. Miller, Martin P. Graham, Amy Anne D. Lassig, Maria M. Galano, Susan G. Fisher, Steven A. Telian |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Male Linkage disequilibrium Heterozygote Hearing loss Single-nucleotide polymorphism Genome-wide association study Disease Biology Polymorphism Single Nucleotide Article Linkage Disequilibrium Loss of heterozygosity 03 medical and health sciences Genetics medicine Humans Protein Isoforms Stroke Cells Cultured Meniere Disease Membrane Glycoproteins Membrane Transport Proteins medicine.disease 030104 developmental biology Case-Control Studies Ear Inner Immunology Female medicine.symptom Meniere's disease |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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