Table of Contents
ISRN Endocrinology
Volume 2012, Article ID 630861, 6 pages
Research Article

Study on Genetic Variance of miR-541 in Type 1 Diabetes

1Department of Endocrinology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210029, China
2Division of Biliary and Pancreatic Disease, Department of General Surgery, The 1st Affiliated Hospital of Nanjing Medical University, No. 300 Guangzhou Road, Nanjing 210029, China

Received 8 October 2012; Accepted 25 October 2012

Academic Editors: K. Yamagami and K. Zajickova

Copyright © 2012 Bei Han 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.


Genetic susceptibility plays a key role in type 1 diabetes development. Because miR-541 gene was located within the associated chromosome loci and its target genes include the diabetes-associated gene neurogenin3, this study aimed to investigate whether miR-541 had type 1 diabetes-associated genetic variations. Type 1 diabetes children and healthy volunteers were recruited; direct sequencing was performed in initial 69 patients and 46 volunteers. We identified 1 reported SNP (rs12893725) and 3 novel genetic variations, for the candidate -404 G→T variation, restriction fragment length polymorphism (RFLP) was performed in total 247 diabetes children and 212 healthy volunteers, a different distribution trait of allele frequencies was found between the two groups, and further clinical analysis found no significant correlation between clinical parameter and genotypes among patients. In addition, by luciferase reporter assay, -404 was found to be within putative promoter region of pre-miR-541; although mutation of G→T has no effect on promoter activity, a significant secondary structure alteration may possibly influence its processing and transcription. In conclusion, we identified 3 novel genetic variations in putative promoter of miR-541 in type 1 diabetes patients; -404 G→T of miR-541 is a potential T1D-associated genetic variation.