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©2014 Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Jun 15, 2014; 5(3): 316-327
Published online Jun 15, 2014. doi: 10.4239/wjd.v5.i3.316
Published online Jun 15, 2014. doi: 10.4239/wjd.v5.i3.316
12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?
Georg Auburger, Suzana Gispert, Ewa Damrath, Melanie Heck, Experimental Neurology, Goethe University Medical School, 60590 Frankfurt am Main, Germany
Suna Lahut, Özgür Ömür, Nazlı Başak, NDAL, Kuzey Park Building, Boğaziçi University, Bebek, 34342 Istanbul, Turkey
Author contributions: Auburger G proposed the manuscript concept and surveyed the literature; Gispert S, Lahut S, Ömür Ö, Damrath E, Heck M, Başak N generated relevant background data and expanded the manuscript.
Correspondence to: Dr. Georg Auburger, Professor, Experimental Neurology, Goethe University Medical School, Building 89, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany. auburger@em.uni-frankfurt.de
Telephone: +49-69-63017428 Fax: +49-69-63017142
Received: October 29, 2013
Revised: March 13, 2014
Accepted: April 11, 2014
Published online: June 15, 2014
Processing time: 229 Days and 22.6 Hours
Revised: March 13, 2014
Accepted: April 11, 2014
Published online: June 15, 2014
Processing time: 229 Days and 22.6 Hours
Core Tip
Core tip: Within the multifactorial pathogenesis of type 1 diabetes mellitus (T1D), a genetic risk mediated by the chromosome 12q24 locus was consistently observed. Mutations in the ATXN2 gene there trigger the pathogenesis of obesity, while mutations in the SH2B3 gene there trigger the pathogenesis of autoimmune processes. Given that both genes show co-regulated expression, their combined effects may drive these two core aspects of T1D. Tissue and phenotype studies of mouse mutants will identify molecular targets for causal therapies.