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Eric Boerwinkle, Ph.D.

Associate Director, Baylor College of Medicine Human Genome Sequencing Center

Eric Boerwinkle, Ph.D.Contact information

Other positions

Professor and Director, IMM Center for Human Genetics

Kozmetsky Family Chair in Human Genetics

Professor and Director, Division of Epidemiology, School of Public Health

Research interests

The research interests of Dr. Boerwinkle encompass the genetic analysis of the common chronic diseases in humans, including coronary artery disease, hypertension, and non-insulin dependent (type II) diabetes.

Dr. Boerwinkle received his B.S. in Biology from the University of Cincinnati in 1980, an M.A. in Statistics (1984), and M.S. and Ph.D. in Human Genetics (1985) from the University of Michigan, Ann Arbor where he served as Senior Research Associate in the Department of Human Genetics from 1985-1986. He joined the University of Texas-Houston Center for Demographic/ Population Genetics in 1986 as a Research Assistant and became Assistant Professor in the same year. In 1991 he joined the Department of Human Genetics at the School of Public Health, University of Texas-Houston Health Science Center as Associate Professor, in 1996 was promoted to Professor, and in 1997, Director of the Human Genetics Center. He became a faculty member of the Institute of Molecular Medicine in 1996 and became Professor and Director of the Research Center for Human Genetics.

Dr. Boerwinkle is a member of the American Diabetes Association and the American Society of Human Genetics. The research interests of Dr. Boerwinkle encompass the genetic analysis of common chronic diseases in humans, including coronary artery disease, hypertension, and non-insulin dependent (type II) diabetes. This work includes localizing genes which contribute to disease risk, identification of potentially functional mutations within these genes, testing these candidate functional mutations in experimental systems, defining the impact of gene variation on the epidemiology of disease, and determining the extent to which these genes interact with environmental factors to contribute to disease risk. Activities include both statistical analysis and laboratory work. A large part of Dr. Boerwinkle's current research effort consist of localizing genes contributing to disease risk using modern genome-wide mapping methods. Success depends on keeping up with the latest genomic technical advances. The laboratory is set-up and operating as a high through-put sequencing and genotyping facility in which speed, accuracy and efficiency are monitored continuously. However, we are constantly seeking out more efficient methods to collect and manage genetic information.

Dr. Boerwinkle and colleagues have completed the world's first genome-wide analyses for a variety of CAD risk factors, including diabetes and hypertension. These investigations have lead to the identification of novel susceptibility genes in both cases. Dr. Boerwinkle is particularly interested in methods for identifying potentially functional mutations within a gene region. This seemingly simple objective is made difficult because the functional mutations are expected to have small effects and are imbedded in a sea of silent genetic variation. Once nearly all of the variation is catalogued directly by DNA sequencing, individuals are genotyped for each variable site. Both novel and traditional statistical methods are applied to relate the array of genetic information to a wealth of phenotypic data. This algorithm generates "candidate functional mutations" that are then tested in an in vitro or mouse model system. Once a functional mutation has been identified, Dr. Boerwinkle's group evaluates the ability of the variable site to predict the onset of disease (e.g. myocardial infarction or stroke) above and beyond traditional risk factors. This work is carried out as part of multiple prospective studies of cardiovascular disease and its risk factors in tens of thousands of individuals representing the major American ethnic groups.

Finally, he is working on experimental designs for studying genotype by environment interaction in humans. In particular, we are working on the extent to which interindividual variation in lipid lowering and anti-hypertensive medications are influenced by genetic factors. The practical objective of the research is to use genetic information to identify individuals at increase risk of disease and to design more efficacious interventions. Genetic studies are defining, at the molecular level, novel mechanisms of disease risk, onset and progression. Dr. Boerwinkle and collaborators address the localization of genes which contribute to disease risk in cardiovascular diseases, hypertension and diabetes. The methodology used involves screening of families having the disease and linking the presence of disease with known markers of the human genome. In this manner, the genomic region in which relevant mutations are located can be mapped and the relevant DNA sequenced. By assessing the structural change the mutation may have caused in the gene product (protein), it is possible to infer how it may affect biological function. In order to determine experimentally whether a mutation is functional, it is necessary to introduce the mutated gene into an animal, usually a mouse, and assess its biological effects on the animal's phenotype.

Dr. Boerwinkle has participated in multiple notable discoveries since joining the Institute. Only two will be highlighted here. First, Dr. Boerwinkle's group has completed the first ever genome-wide search for genes contributing to inter-individual blood pressure levels. This initial effort has lead to the identification of an important gene (an adrenergic receptor) which influences blood pressure levels and the risk to hypertension. This is the first time that such a genome-wide approach has led to the identification of a susceptibility gene to a major cardiovascular disease risk factor. Second, Dr. Boerwinkle has participated in similar efforts to identify genes contributing to the risk of developing non-insulin dependent (type II) diabetes. In this case, however, there were no genes in the region that were suspects for the disease. A team of collaborating investigators have painstakingly characterized the genetic region and identified the mutated gene (in this case a protease). This is the first time that anyone has ever positionally cloned a gene contributing to any common chronic disease. This work is of obvious potential clinical importance. It may lead to improved prediction of those at increased risk of disease and the design of more efficacious intervention strategies. The technologies and information from the human genome project provide new tools for lessening the burden of ill-health. Dr. Boerwinkle's accomplishments in developing an internationally recognized team of investigators targeting the genetics of cardiovascular disease and its risk factors ensures a productive future and further discoveries.


ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study., Klos, Kathy L. E., Boerwinkle Eric, Ferrell Robert E., Turner Stephen T., and Morrison Alanna C. , Journal of lipid research, 2008 Aug, Volume 49, Issue 8, p.1701-6, (2008) Abstract
Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA., Leduc, Magalie S., Shimmin Lawrence C., Klos Kathy L. E., Hanis Craig, Boerwinkle Eric, and Hixson James E. , Journal of lipid research, 2008 Dec, Volume 49, Issue 12, p.2648-56, (2008) Abstract
Relationship of alcohol consumption and type of alcoholic beverage consumed with plasma lipid levels: differences between Whites and African Americans of the ARIC study., Volcik, Kelly A., Ballantyne Christie M., Fuchs Flavio D., Sharrett Richey A., and Boerwinkle Eric , Annals of epidemiology, 2008 Feb, Volume 18, Issue 2, p.101-7, (2008) Abstract
Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10., Morrison, Alanna C., Boerwinkle Eric, Turner Stephen T., and Ferrell Robert E. , American journal of hypertension, 2008 Jan, Volume 21, Issue 1, p.117-21, (2008) Abstract
APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels., Klos, Kathy, Shimmin Lawrence, Ballantyne Christie, Boerwinkle Eric, Clark Andrew, Coresh Josef, Hanis Craig, Liu Kiang, Sayre Scott, and Hixson James , Human molecular genetics, 2008 Jul 1, Volume 17, Issue 13, p.2039-46, (2008) Abstract
Peroxisome proliferator-activated receptor [alpha] genetic variation interacts with n-6 and long-chain n-3 fatty acid intake to affect total cholesterol and LDL-cholesterol concentrations in the Atherosclerosis Risk in Communities Study., Volcik, Kelly A., Nettleton Jennifer A., Ballantyne Christie M., and Boerwinkle Eric , The American journal of clinical nutrition, 2008 Jun, Volume 87, Issue 6, p.1926-31, (2008) Abstract
Hepatocyte nuclear factor 1 and hypertensive nephropathy., Dmitrieva, Renata I., Hinojos Cruz A., Boerwinkle Eric, Braun Michael C., Fornage Myriam, and Doris Peter A. , Hypertension, 2008 Jun, Volume 51, Issue 6, p.1583-9, (2008) Abstract
Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent upon hypertension status: The ARIC study., Volcik, Kelly A., Ballantyne Christie M., Braun Michael C., Coresh Josef, Mosley Thomas H., and Boerwinkle Eric , American journal of hypertension, 2008 May, Volume 21, Issue 5, p.533-8, (2008) Abstract
Longitudinal changes in triglycerides according to ANGPTL4[E40K] genotype and longitudinal body weight change in the atherosclerosis risk in communities study., Nettleton, Jennifer A., Volcik Kelly A., Demerath Ellen W., Boerwinkle Eric, and Folsom Aaron R. , Annals of epidemiology, 2008 Nov, Volume 18, Issue 11, p.842-6, (2008) Abstract
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL., Romeo, Stefano, Pennacchio Len A., Fu Yunxin, Boerwinkle Eric, Tybjaerg-Hansen Anne, Hobbs Helen H., and Cohen Jonathan C. , Nature genetics, 2007 Apr, Volume 39, Issue 4, p.513-6, (2007) Abstract
A genome-wide linkage scan for diabetic retinopathy susceptibility genes in Mexican Americans with type 2 diabetes from Starr County, Texas., Hallman, Michael D., Boerwinkle Eric, Gonzalez Victor H., Klein Barbara E. K., Klein Ronald, and Hanis Craig L. , Diabetes, 2007 Apr, Volume 56, Issue 4, p.1167-73, (2007) Abstract
Corticotropin releasing hormone (CRH) gene variation: comprehensive resequencing for variant and molecular haplotype discovery in monosomic hybrid cell lines., Shimmin, Lawrence C., Natarajan Sivamani, Ibarguen Heladio, Montasser May, Kim Do-Kyun, Hanis Craig L., Boerwinkle Eric, Wadhwa Pathik D., and Hixson James E. , DNA sequence : the journal of DNA sequencing and mapping, 2007 Dec, Volume 18, Issue 6, p.434-44, (2007) Abstract
Absence of an interaction between the angiotensin-converting enzyme insertion-deletion polymorphism and pravastatin on cardiovascular disease in high-risk hypertensive patients: the Genetics of Hypertension-Associated Treatment (GenHAT) study., Maitland-van der Zee, Anke-Hilse, Boerwinkle Eric, Arnett Donna K., Davis Barry R., Leiendecker-Foster Catherine, Miller Michael B., Klungel Olaf H., Ford Charles E., and Eckfeldt John H. , American heart journal, 2007 Jan, Volume 153, Issue 1, p.54-8, (2007) Abstract
Family-based association study of matrix metalloproteinase-3 and -9 haplotypes with susceptibility to ischemic white matter injury., Fornage, Myriam, Mosley Thomas H., Jack Clifford R., de Andrade Mariza, Kardia Sharon L. R., Boerwinkle Eric, and Turner Stephen T. , Human genetics, 2007 Jan, Volume 120, Issue 5, p.671-80, (2007) Abstract
Sequence variation in the soluble epoxide hydrolase gene and subclinical coronary atherosclerosis: interaction with cigarette smoking., Wei, Qi, Doris Peter A., Pollizotto Martin V., Boerwinkle Eric, Jacobs David R., Siscovick David S., and Fornage Myriam , Atherosclerosis, 2007 Jan, Volume 190, Issue 1, p.26-34, (2007) Abstract
Interaction effects of high-density lipoprotein metabolism gene variation and alcohol consumption on coronary heart disease risk: the atherosclerosis risk in communities study., Volcik, Kelly, Ballantyne Christie M., Pownall Henry J., Sharrett Richey A., and Boerwinkle Eric , Journal of studies on alcohol and drugs, 2007 Jul, Volume 68, Issue 4, p.485-92, (2007) Abstract
Relation of PCSK9 mutations to serum low-density lipoprotein cholesterol in childhood and adulthood (from The Bogalusa Heart Study)., Hallman, Michael D., Srinivasan Sathanur R., Chen Wei, Boerwinkle Eric, and Berenson Gerald S. , The American journal of cardiology, 2007 Jul 1, Volume 100, Issue 1, p.69-72, (2007) Abstract
Prediction of coronary heart disease risk using a genetic risk score: the Atherosclerosis Risk in Communities Study., Morrison, Alanna C., Bare Lance A., Chambless Lloyd E., Ellis Stephen G., Malloy Mary, Kane John P., Pankow James S., Devlin James J., Willerson James T., and Boerwinkle Eric , American journal of epidemiology, 2007 Jul 1, Volume 166, Issue 1, p.28-35, (2007) Abstract
An entropy-based genome-wide transmission/disequilibrium test., Zhao, Jinying, Boerwinkle Eric, and Xiong Momiao , Human genetics, 2007 May, Volume 121, Issue 3-4, p.357-67, (2007) Abstract
Specific P-selectin and P-selectin glycoprotein ligand-1 genotypes/haplotypes are associated with risk of incident CHD and ischemic stroke: the Atherosclerosis Risk in Communities (ARIC) study., Volcik, Kelly A., Ballantyne Christie M., Coresh Josef, Folsom Aaron R., and Boerwinkle Eric , Atherosclerosis, 2007 Nov, Volume 195, Issue 1, p.e76-82, (2007) Abstract
Consistent effects of genes involved in reverse cholesterol transport on plasma lipid and apolipoprotein levels in CARDIA participants., Klos, Kathy L. E., Sing Charles F., Boerwinkle Eric, Hamon Sara C., Rea Thomas J., Clark Andrew, Fornage Myriam, and Hixson James E. , Arteriosclerosis, thrombosis, and vascular biology, 2006 Aug, Volume 26, Issue 8, p.1828-36, (2006) Abstract
Apolipoprotein E polymorphisms predict low density lipoprotein cholesterol levels and carotid artery wall thickness but not incident coronary heart disease in 12,491 ARIC study participants., Volcik, Kelly A., Barkley Ruth Ann, Hutchinson Richard G., Mosley Thomas H., Heiss Gerardo, Sharrett Richey A., Ballantyne Christie M., and Boerwinkle Eric , American journal of epidemiology, 2006 Aug 15, Volume 164, Issue 4, p.342-8, (2006) Abstract
Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels: the Bogalusa Heart Study., Hallman, Michael D., Srinivasan Sathanur R., Chen Wei, Boerwinkle Eric, and Berenson Gerald S. , Metabolism: clinical and experimental, 2006 Dec, Volume 55, Issue 12, p.1574-81, (2006) Abstract
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease., Cohen, Jonathan C., Boerwinkle Eric, Mosley Thomas H., and Hobbs Helen H. , The New England journal of medicine, 2006 Mar 23, Volume 354, Issue 12, p.1264-72, (2006) Abstract
P-selectin Thr715Pro polymorphism predicts P-selectin levels but not risk of incident coronary heart disease or ischemic stroke in a cohort of 14595 participants: the Atherosclerosis Risk in Communities Study., Volcik, Kelly A., Ballantyne Christie M., Coresh Josef, Folsom Aaron R., Wu Kenneth K., and Boerwinkle Eric , Atherosclerosis, 2006 May, Volume 186, Issue 1, p.74-9, (2006) Abstract

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