The association of variable number of tandem repeats of the insulin gene with susceptibility to type 1 diabetes among Korean subjects

2010 ◽  
Vol 26 (6) ◽  
pp. 474-480 ◽  
Author(s):  
Hye Rim Chung ◽  
Sei Won Yang ◽  
Choong Ho Shin ◽  
Kyong Soo Park ◽  
Young Ah Lee ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Tandem Repeats ◽  
Variable Number ◽  
Insulin Gene

scholarly journals Class III Alleles of the Variable Number of Tandem Repeat Insulin Polymorphism Associated with Silencing of Thymic Insulin Predispose to Type 1 Diabetes

2001 ◽  
Vol 86 (8) ◽  
pp. 3705-3710 ◽  
Author(s):  
Petros Vafiadis ◽  
Houria Ounissi-Benkalha ◽  
Michael Palumbo ◽  
Rosemarie Grabs ◽  
Marylène Rousseau ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Tandem Repeats ◽  
Ectopic Expression ◽  
Variable Number ◽  
Specific Class ◽  
Class Iii ◽  
Diabetes Susceptibility ◽  
Human Thymus ◽  
Expression Site

Type 1 diabetes results from autoimmune destruction of the insulin-producing pancreatic β cells. The insulin gene (INS) is also expressed in human thymus, an ectopic expression site likely involved in immune tolerance. The IDDM2 diabetes susceptibility locus maps to a minisatellite composed of a variable number of tandem repeats situated 0.5 kb upstream of INS. Chromosomes carrying the protective long INS variable number of tandem repeats alleles (class III) produce higher levels of thymic INS mRNA than those with the predisposing, short class I alleles. However, complete silencing of thymic INS transcripts from the class III chromosome was found in a small proportion of heterozygous human thymus samples. We hypothesized that the specific class III alleles found on these chromosomes silence rather than enhance thymic insulin expression. To test the prediction that these alleles are predisposing, we developed a DNA fingerprinting method for detecting two putative “silencing” alleles found in two thymus samples (S1, S2). In a set of 287 diabetic children and their parents we found 13 alleles matching the fingerprint of the S1 or S2 alleles. Of 18 possible transmissions, 12 of the S1–S2 alleles were transmitted to the diabetic offspring, a frequency of 0.67, significantly higher than the 0.38 seen in the remaining 142 class III alleles; P = 0.025. This confirms our prediction and represents an additional level of correlation between thymic insulin and diabetes susceptibility, which supports a thymic enhancer effect of the INS variable number of tandem repeats as the mechanism of IDDM2 and refines the contribution of IDDM2 genotyping to diabetes risk assessment.

scholarly journals Association of the CpG Methylation Pattern of the Proximal Insulin Gene Promoter with Type 1 Diabetes

PLoS ONE ◽  
2012 ◽  
Vol 7 (5) ◽  
pp. e36278 ◽  
Author(s):  
Delphine Fradin ◽  
Sophie Le Fur ◽  
Clémence Mille ◽  
Nadia Naoui ◽  
Chris Groves ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Gene Promoter ◽  
Methylation Pattern ◽  
Cpg Methylation ◽  
Insulin Gene

Proinsulin 2 Knockout NOD Mice: A Model for Genetic Variation of Insulin Gene Expression in Type 1 Diabetes

Diabetes ◽  
2002 ◽  
Vol 51 (Supplement 3) ◽  
pp. S489-S493 ◽  
Author(s):  
D. Dubois-Lafforgue ◽  
L. Mogenet ◽  
K. Thebault ◽  
J. Jami ◽  
P. Krief ◽  
...  
Keyword(s):  
Gene Expression ◽  
Type 1 Diabetes ◽  
Genetic Variation ◽  
Nod Mice ◽  
Insulin Gene ◽  
Insulin Gene Expression

Variable Number of Tandem Repeats of the Insulin Gene Determines Susceptibility to Latent Autoimmune Diabetes in Adults

2004 ◽  
Vol 8 (1) ◽  
pp. 43-49 ◽  
Author(s):  
Gloria Edith Cerrone ◽  
Mariela Caputo ◽  
Ariel Pablo Lopez ◽  
Claudio González ◽  
Carmen Massa ◽  
...  
Keyword(s):  
Tandem Repeats ◽  
Autoimmune Diabetes ◽  
Variable Number ◽  
Insulin Gene ◽  
Latent Autoimmune Diabetes
Sign in / Sign up

Export Citation Format

Share Document