Keith L. Keene, PhD
East Carolina University
Ph.D., Molecular Medicine, 2003-2007
Wake Forest University
School of Medicine
BS, Biology, 1999-2003
North Carolina A&T State University, Greensboro, NC
Type 1 diabetes (T1D) is an autoimmune disease that results in permanent destruction of the insulin producing beta cells of the pancreas, and a dependence on exogenous insulin for survival. T1D is a complex disease that involves both genetic and environmental risk factors. Until recently, the four accepted T1D genetic risk loci were: the HLA class II region (6p21), Insulin gene (11p15), CTLA4 gene (2q33), and the PTPN22 gene (1p13). Genome wide association studies (GWAS) have recently provided a new list of potential T1D predisposing genes, including the IFIH1 (Interferon Induced with helicase C domain 1) gene, also known as Melanoma differentiation associated gene 5 (MDA5). The protein encoded by this gene is a putative RNA helicase that has been implicated in innate immune defense against viruses. Evidence for involvement of IFIH1 in T1D etiology comes from a single nucleotide polymorphism (SNP) in the gene that is associated with T1D in case-control and family studies. We hypothesize that this association reflects a function for the IFIH1 gene in T1D susceptibility. We propose to test this hypothesis by comprehensively evaluating SNPs and haplotypes within the IFIH1 gene for association with T1D, and exploring possible functional roles for IFIH1 variants in relation to T1D.
Leak TS, Perlegas PS, Smith SG, Keene KL, Hicks PJ, Langefeld CD, Mychaleckyj JC, Rich SS, Kirk JK, Freedman BI, Bowden, DW, Sale MM. Variants in intron 13 of the ELMO1 gene are associated with diabetic nephropathy in an African American population. Ann Hu Gen. 2008 (In press)
Keene KL, Mychaleckyj JC, Leak TS, Smith SG, Perlegas PS, Divers J, Langefeld CD, Freedman BI, Bowden DW, Sale MM. Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end-stage renal disease. Hum Genet. 2008; 124(2):147-54.
Hicks PJ, Staten JL, Palmer ND, Langefeld CD, Ziegler JT, Keene KL, Sale MM, Bowden DW,
Freedman BI. Association Analysis of the Ephrin-B2 Gene in African-Americans with End-Stage Renal Disease. Am J Nephrol. 2008; 28(6):914-920.
Leak TS, Mychaleckyj JC, Smith SG, Keene KL, Gordon CJ, Hicks PJ, Freedman BI, Bowden DW, Sale MM. Evaluation of a SNP map of 6q24-27 confirms diabetic nephropathy loci and identifies novel associations in type 2 diabetes patients with nephropathy from an African-American population. Hum Genet. 2008; 124(1):63-71.
Keene KL, Mychaleckyj JC, Smith SG, Leak TS, Perlegas PS, Langefeld CD, Herrington DM, Freedman BI, Rich SS, Bowden DW, Sale MM. Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population. Hum Genet. 2008; 123(4):333-41.
For a listing of additional publications, refer to PubMed, a service provided by the National Library of Medicine.
Diabetes and Hormone Action Training Grant (T32)
T32 DK007320 (NIH/NIDDK)
University of Virginia 3/1/2008- present
Role: Postdoctoral Research Fellow
National Research Service Award (NRSA)
F31 DK072550-02 Keene (PI) 7/15/2005- 11/19/2007
NIH/NIDDK $USD 124,206
Chromosome 6q and Diabetes in African Americans, Role: PI
Honors and Awards:
Juvenile Diabetes Research Foundation International Postdoctoral Fellowship (2 years total, starting September 1, 2009) by the Juvenile Diabetes Research Foundation (JDRF)
FASEB MARC Postdoctoral Professional Development and Enrichment Award.