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CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden
Authors:Sofia Mayans  Kurt Lackovic  Caroline Nyholm  Petter Lindgren  Karin Ruikka  Mats Eliasson  Corrado M Cilio  Dan Holmberg
Institution:1.Medical and Clinical Genetics, Dept. of Medical Biosciences,Ume? University,Ume?,Sweden;2.Cellular Autoimmunity Unit, Dept. of Clinical Sciences, Malm? University Hospital,Lund University,Malm?,Sweden;3.Department of Medicine,Sunderby Hospital,Lule?,Sweden;4.Department of Public Health and Clinical Medicine,Ume? University,Ume?,Sweden
Abstract:

Background  

Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression level ratio of the soluble (sCTLA-4) to full length CTLA-4 (flCTLA-4) isoforms. The aims of our study were to replicate the association previously published by Ueda et al. of polymorphisms in the CTLA-4 region to T1D and AITD and to determine whether the CT60 polymorphism affects the expression level ratio of sCTLA-4/flCTLA-4 in our population.
Keywords:
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