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Journal of Diabetes Research
Volume 2015, Article ID 485132, 6 pages
Research Article

The Genetic Profile from HLA and Non-HLA Loci Allows Identification of Atypical Type 2 Diabetes Patients

1Biodiversity and Genetic Department, Instituto de Investigaciones Biológicas Clemente Estable, 11600 Montevideo, Uruguay
2Teaching Care Unit, Unit of Diabetes “Hospital Pasteur”, ASSE, Ministry of Public Health, 11600 Montevideo, Uruguay
3Diabetology Service of “Centro de Asistencia del Sindicato Médico del Uruguay”, 11800 Montevideo, Uruguay

Received 29 January 2015; Accepted 23 March 2015

Academic Editor: Joseph Fomusi Ndisang

Copyright © 2015 Matias Fabregat et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The complex diagnosis and treatment of diabetes highlight the need for markers to define how to monitor patients correctly during the course of their disease. Different studies demonstrate the existence of patients who cannot be clearly classified. We have previously shown that it is possible to differentiate “atypical diabetic patients” based on genotyping the HLA. In this work we show that the analysis of non-HLA related to type 1 diabetes in the INS-VNTR, SNP rs689, and rs3842753 improves the identification of these patients. We genotyped 913 individuals comprising controls from the general population and “classic” and “atypical” diabetic patients. We compared the distribution of these loci and analyzed linkage disequilibrium. The haplotype was in LD for all the SNPs that were evaluated. Regarding their association with the disease, the haplotype IAC was associated with type 1 (odds 2.60, 1.82–3.72, CI 95%) and “atypical diabetes” (odds 1.50, 1.01–2.23, CI 95%), whereas we did not observe an association with type 2 diabetes. Therefore, our results confirm that atypical diabetes is a different entity of the disease where the patient presents with a genetic background of T1D and a T2D phenotype, findings that are likely to be relevant for patient diagnosis and management in the clinic.