Type 1 Diabetes Genetics Consortium Publications

UFDI Investigator Patrick Concannon, Ph.D.
UFDI Investigator Patrick Concannon, Ph.D.

UFDI Investigator Patrick Concannon, Ph.D. and University of Virginia School of Medicine Investigator Stephen S. Rich recently published two papers on their findings from the Type 1 Diabetes Genetics Consortium (T1DGC).

Summary of the Type 1 Diabetes Genetics Consortium Autoantibody Workshop

Here, Concannon and Rich provide a general review of the T1DGC: “the T1DGC sponsored an Autoantibody Workshop, providing data from a large number of type 1 diabetes-affected sibling pair families with multiple autoantibodies assayed (both islet and nonislet targets) and extensive genetic and clinical information. Multiple groups analyzed the autoantibody data and various forms of genetic data.”

“There were several consistent findings that emerged from the T1DGC Autoantibody Workshop. The human MHC (HLA genes) is the major contributor to variation in the presence of islet and nonislet autoantibodies in subjects with established type 1 diabetes. The contribution of non-MHC genes/variants to autoantibody prevalence is dependent on the set of single nucleotide polymorphisms tested, the autoantibody evaluated, and the inclusion criteria for sample selection. On the basis of these results, the HLA alleles DRB1*0101 and DRB1*0404 and the PTPN22 R620W variant are consistently associated with autoimmunity in the T1DGC Autoantibody Workshop data.”

Role of Type 1 Diabetes-Associated SNPs on Autoantibody Positivity in the Type 1 Diabetes Genetics Consortium: Overview

The first publication covers factors that contribute to the initiation of islet autoimmunity. According to Concannon and Rich, “the goal of the T1DGC Autoantibody Workshop was to use T1DGC phenotypic, genotypic, and autoantibody data on affected sibling pair (ASP) families to discover genes accounting for variation in presence of autoantibodies.”

T1DGC created collections to:

  • Discover genes that modify the risk of T1D
  • ┬áConduct phenotyping related to risk
  • Make available biologic and genetic resources for research.

You can find reports of six analyses in the publication here. The analyses found that “although selected variants in the available genes remain important genetic predictors for prevalence of T1D, other genes and nongenetic factors are expected to contribute to the initiation of islet autoimmunity, the first step in the pathogenesis of T1D.”

Original Publications

  • Rich SS, Concannon P. (2015) Summary of the Type 1 Diabetes Genetics Consortium Autoantibody Workshop. Diabetes Care.2015 Oct;38(Suppl 2):S45-S48.
  • Rich SS, Concannon P. (2015) Role of Type 1 Diabetes-Associated SNPs on Autoantibody Positivity in the Type 1 Diabetes Genetics Consortium: Overview. Diabetes Care. 2015 Oct;38(Suppl 2):S1-S3.