Genetics of Type 1 Diabetes
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My research focuses on the identification of genetic variants that influence the development of Type 1 diabetes (T1D). T1D is a complex disorder, which arises from the autoimmune destruction of the insulin secreting ?-cells of the pancreas leading to a life-long dependence on exogenous insulin. The increased concordance rates for T1D in monozygotic, as opposed to dizygotic twins as well as the tendency for the disorder to cluster within families suggest that a portion of the risk for T1D is inherited. We are searching for genetic variants that influence susceptibility to T1D via linkage analysis and association studies in a large data set of T1D multiplex families. We take a systematic approach to fine map well established linkage peaks for T1D, in particular the peak on chromosome 16q22-q24. Furthermore, we assess functional candidate genes by re-sequencing followed by high-throughput SNP genotyping and family based association analysis. We are also interested in evaluating the genotype-phenotype correlation of known genetic risk variants. Ultimately identification of the genetic risk factors that play a role in type 1 diabetes will help us understand the mechanisms that lead to autoimmunity in T1D and assist researchers in devising preventive and therapeutic treatments.
- S. Onengut-Gumuscu, Buckner JH., and Concannon P., “A haplotype-based analysis of the PTPN22 locus in type 1 diabetes,” Diabetes, 55(10):2883-2889, 2006.
- S. Onengut-Gumuscu and Concannon P., “The genetics of type 1 diabetes: lessons learned and future challenges,” J Autoimmunity, 25 Suppl:34-9, 2005.
- S. Onengut-Gumuscu, Ewens KG., Spielman RS., and Concannon P., “A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families,”Genes Immun., 5(8):678-80, 2004.
- VA. Morrison, Onengut-Gumuscu S, and Concannon P., “A functional variant of IRS1 is associated with type 1 diabetes in families from the US and UK,” Mol Genet Metab., 81:291-294, 2004.
Mailing Address: PO Box 800717, Charlottesville, VA 22908