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

详细信息    查看全文

• 作者：Thankam S. Nair^a ; Pavan K. Kommareddi^a ; Maria M. Galano^a ; Danielle M. Miller^a ; Bala Naveen Kakaraparthi^a ; Steven A. Telian^a ; H. Alex Arts^a ; Hussam El-Kashlan^a ; Alyse Kilijanczyk^a ; Amy Anne D. Lassig^a ; Martin P. Graham^a ; Susan G. Fisher^c ; Stefan W. Stoll^b ; Rajan P. Nair^b ; James T. Elder^b ; Thomas E. Carey^a ; ^{careyte@umich.edu}
• 关键词：Choline transporter-like protein 2 ; solute carrier protein 44A2 ; Hearing ; Vestibular tissue ; Human gene expression ; DNA sequence differences ; Amino acid polymorphisms ; Meniere's disease
• 刊名：Genomics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：108
• 期：5-6
• 页码：201-208
• 全文大小：1160 K
• 卷排序：108

文摘

We investigated SLC44A2 polymorphism p.152R/Q linked to venous thromboembolism as a factor in severity of Meniere's disease We showed a trend for association of the heterozygous state to severe Meniere's disease We demonstrated the isoform 1 and isoform 2 distribution in human tissue types We demonstrated linkage disequilibrium of rs2288904 with rs3087969 We placed these findings in context with the role of SLC44A2 in other human diseases