Michele Sale
Associate Professor of Medicine and Biochemistry & Molecular Genetics
Ph.D., University of Tasmania, Australia
Genetics of Complex Diseases


My group's research is aimed at identifying and characterizing genetic contributors to complex disease susceptibility.

Type 2 diabetes: We are using a genome-wide association study (GWAS) approach to: (1) identify and characterize genetic variants that contribute to type 2 diabetes susceptibility in African American Sea Islanders of coastal South Carolina and Georgia, and (2) identify variants contributing to lipoprotein subclasses — predictors of cardiovascular outcomes — measured using nuclear magnetic resonance (NMR).

Stroke: About 25 percent of people who recover from their first stroke will have another stroke within 5 years. The Vitamin Intervention for Stroke Prevention (VISP) trial enrolled ischemic stroke patients, randomized them to either high or low dose folic acid, vitamin B6 and vitamin B12, then documented incident vascular events over 2 years. Our studies aim to (1) identify genetic variants associated with recurrent ischemic stroke and combined vascular endpoints; (2) gain insights into individual responses to B vitamin therapy; (3) develop predictive models of recurrent stroke, incorporating genetic and clinical information. This study is part of GARNET, the Genomics and Randomized Trials Network.

Otitis media is an inflammation of the middle ear caused by infection. Family studies have demonstrated a role for genetic factors in disease susceptibility. Projects underway aim to (1) identify susceptibility variants for chronic and recurrent otitis media using both GWAS and linkage approaches, (2) characterize their role in disease, and (3) survey the microbial diversity of the adenoid surface in children with a history of chronic infection.

Selected References

Sale MM, Lu L, Spruill IJ, Fernandes JK, Lok KH, Divers J, Langefeld CD, GarveyWT. (2009) "Genome-wide linkage scan in Gullah-speaking African American families with type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR)." Diabetes. 58:260-7. Epub 2008 Oct 3. [PubMed]

Leak TS, Perlegas PS, Smith SG, Keene KL, Hicks PJ, Langefeld CD, MychaleckyjJC, Rich SS, Kirk JK, Freedman BI, Bowden DW, Sale MM. (2009) "Variants in intron 13 of the ELMO1 gene are associated with diabetic nephropathy in African Americans." Ann Hum Genet. 73:152-9. Epub 2009 Jan 23. [PubMed]

Divers J, Sale MM, Lu L, Chen WM, Lok KH, Spruil IJ, Fernandes JK, Langefeld CD,Garvey WT. (2009) "The genetic architecture of lipoprotein subclasses in Gullah-speaking African American families enriched for type 2 diabetes: The sea islands genetic African American registry (project SuGAR)." J Lipid Res. Sep [PubMed]

Ramoni RB, Himes BE, Sale MM, Furie KL, Ramoni MF. (2009) "Predictive genomics of cardioembolic stroke." Stroke. 40(3 Suppl):S67-70. [PubMed]

McGeachie M, Badovinac Ramoni RL, Mychaleckyj JC, Furie KL, DreyfussJM, Liu Y, Herrington D, Guo X, Lima JA, Post W, Rotter JI, Rich SS,Sale M, Ramoni MF. An integrative predictive model of coronary arterycalcification. Circulation 2009 (in press).