Research in our laboratory is focused on efforts to identify human genes that contribute to common diseases in our population. We use a wide range of molecular genetic techniques, including linkage and association studies with polymorphic DNA sequences, physical mapping of chromosomes, and functional analysis of candidate disease genes and the proteins for which they code. The long term focus of the laboratory has been genetic analysis of diabetes, especially type 2 diabetes (non-insulin dependent diabetes mellitus, adult onset diabetes) and complications of diabetes such as diabetic nephropathy and cardiovascular disease. Projects range from a focused molecular genetic effort to identify diabetes genes in a small region of chromosome 20 q12-q13.1, to the evaluation of whether genes contribute to the development of cardiovascular and cerebrovascular disease in people with type 2 diabetes using sophisticated clinical methods to quantify cardiovascular disease (e.g., radiological measurement of coronary calcified plaque) and cerebrovascular disease (magnetic resonance imaging).

Recent publications:

Lehtinen AB, Burdon KP, Lewis JP, Langefeld CD, Ziegler JT, Rich SS, Register TC, Carr JJ, Freedman BI, Bowden DW. Association of alpha2-Heremans-Schmid glycoprotein polymorphisms with subclinical atherosclerosis.  J Clin Endocrinol Metab. 92:345-352 (2007)

Freedman BI, Hicks PJ, Sale MM, Pierson ED, Langefeld CD, Rich SS, Xu J, McDonough C, Janssen B, Yard BA, van der Woude FJ, Bowden DW.  A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans.  Nephrol Dial Transplant. 22:1131-5 (2007)

Gallagher CJ, Keene KL, Mychaleckyj JC, Langefeld CD, Hirschhorn JN, Henderson BE, Gordon CJ, Freedman BI, Rich SS, Bowden DW, Sale MM.  Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations.  Diabetes  56:675-84 (2007)

Iyengar SK, Abboud HE, Goddard KA, Saad MF, Adler SG, Arar NH, Bowden DW, Duggirala R, Elston RC, Hanson RL, Ipp E, Kao WH, Kimmel PL, Klag MJ, Knowler WC, Meoni LA, Nelson RG, Nicholas SB, Pahl MV, Parekh RS, Quade SR, Rich SS, Rotter JI, Scavini M, Schelling JR, Sedor JR, Sehgal AR, Shah VO, Smith MW, Taylor KD, Winkler CA, Zager PG, Freedman BI; Family Investigation of Nephropathy and Diabetes Research Group.  Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: the family investigation of nephropathy and diabetes (FIND).  Diabetes  56:1577-85 (2007)

Lakoski SG, Li L, Langefeld CD, Liu Y, Howard TD, Brosnihan KB, Xu J, Bowden DW, Herrington DM. The association between innate immunity gene (IRAK1) and C-reactive protein in the Diabetes Heart Study.  Exp Mol Pathol.  82:280-3 (2007)

Suganuma N, Segade F, Matsuzu K, Bowden DW.  Differential expression of facilitative glucose transporters in normal and tumour kidney tissues.  BJU Int.  99:1143-9 (2007)

Yeboah J, Sane DC, Crouse JR, Herrington DM, Bowden DW.  Low plasma levels of FGF-2 and PDGF-BB are associated with cardiovascular events in type II diabetes mellitus (diabetes heart study).  Dis Markers. 23:173-8 (2007)

Wagenknecht LE, Langefeld CD, Freedman BI, Carr JJ, Bowden DW. A comparison of risk factors for calcified atherosclerotic plaque in the coronary, carotid, and abdominal aortic arteries: the diabetes heart study. Am J Epidemiol.  166:340-7 (2007)

Gallagher CJ, Langefeld CD, Gordon CJ, Campbell JK, Mychaleckyj JC, Bryer-Ash M, Rich SS, Bowden DW, Sale MM. Association of the estrogen receptor-alpha gene with the metabolic syndrome and its component traits in African-American families: the Insulin Resistance Atherosclerosis Family Study. Diabetes  56:2135-41 (2007)

Sale MM, Smith SG, Mychaleckyj JC, Keene KL, Langefeld CD, Leak TS, Hicks PJ, Bowden DW, Rich SS, Freedman BI. Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an African-American population enriched for nephropathy. Diabetes.  56:2638-42 (2007)

Leak TS, Keene KL, Langefeld CD, Gallagher CJ, Mychaleckyj JC, Freedman BI, Bowden DW, Rich SS, Sale MM.  Association of the proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene with type 2 diabetes in an African American population.  Mol Genet Metab. 92:145-50 (2007)

Freedman BI, Bostrom M, Daeihagh P, Bowden DW.  Genetic factors in diabetic nephropathy. Clin J Am Soc Nephrol. 2:1306-16 (2007)

Saran AM, Hsu FC, Lohman KK, Carr JJ, Bowden DW, Wagenknecht LE, Freedman BI. Kidney Volume Associations with Subclinical Renal and Cardiovascular Disease: The Diabetes Heart Study. Am J Nephrol. 28:366-371 (2007)

Carr JJ, Register TC, Hsu FC, Lohman K, Lenchik L, Bowden DW, Langefeld CD, Xu J, Rich SS, Wagenknecht LE, Freedman BI. Calcified atherosclerotic plaque and bone mineral density in type 2 diabetes: The diabetes heart study. Bone. 42:43-52 (2008)

Palmer ND, Lehtinen AB, Langefeld CD, Campbell JK, Haffner SM, Norris JM, Bergman RN, Goodarzi MO, Rotter JI, Bowden DW. Association of TCF7L2 Gene Polymorphisms with Reduced Acute Insulin Response in Hispanic Americans.  J Clin Endocrinol Metab. 93:304-9 (2008)

Schelling JR, Abboud HE, Nicholas SB, Pahl MV, Sedor JR, Adler SG, Arar NH, Bowden DW, Elston RC, Freedman BI, Goddard KA, Guo X, Hanson RL, Ipp E, Iyengar SK, Jun G, Kao WH, Kasinath BS, Kimmel PL, Klag MJ, Knowler WC, Nelson RG, Parekh RS, Quade SR, Rich SS, Saad MF, Scavini M, Smith MW, Taylor K, Winkler CA, Zager PG, Shah VO; Family Investigation of Nephropathy and Diabetes Research Group.  Genome-wide scan for estimated glomerular filtration rate in multi-ethnic diabetic populations: the Family Investigation of Nephropathy and Diabetes (FIND).  Diabetes  57:235-43 (2008)