SLC44A2 single nucleotide polymorphisms, isoforms, and expression: Association with severity of Meniere's disease?
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.
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Thankam S
TS
Nair
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Pavan K
PK
Kommareddi
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Maria M
MM
Galano
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Danielle M
DM
Miller
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Bala Naveen
BN
Kakaraparthi
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Steven A
SA
Telian
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
H Alex
HA
Arts
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Hussam
H
El-Kashlan
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Alyse
A
Kilijanczyk
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Amy Anne D
AA
Lassig
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States.
Martin P
MP
Graham
Temple University, Department of Clinical Sciences, Philadelphia, PA, United States.
Susan G
SG
Fisher
Department of Dermatology, University of Michigan, Ann Arbor, MI, United States.
Stefan W
SW
Stoll
Department of Dermatology, University of Michigan, Ann Arbor, MI, United States.
Rajan P
RP
Nair
Department of Dermatology, University of Michigan, Ann Arbor, MI, United States.
James T
JT
Elder
Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, United States. Electronic address: careyte@umich.edu.
Thomas E
TE
Carey
D000328:Adult; D016022:Case-Control Studies; D002478:Cells, Cultured; D007758:Ear, Inner / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D008575:Meniere Disease / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism
D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D020033:Protein Isoforms; C484524:SLC44A2 protein, human
Amino acid polymorphisms; Choline transporter-like protein 2: solute carrier protein 44A2; DNA sequence differences; Hearing; Human gene expression; Meniere's disease; Vestibular tissue