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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.


MMP2 genetic variation is associated with measures of fibrous cap thickness: The Atherosclerosis Risk in Communities Carotid MRI Study., Volcik, Kelly A., Campbell Stephen, Chambless Lloyd E., Coresh Josef, Folsom Aaron R., Mosley Thomas H., Ni Hanyu, Wagenknecht Lynne E., Wasserman Bruce A., and Boerwinkle Eric , Atherosclerosis, 2010 May, Volume 210, Issue 1, p.188-93, (2010) Abstract
Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels., Barbalic, Maja, Dupuis Josée, Dehghan Abbas, Bis Joshua C., Hoogeveen Ron C., Schnabel Renate B., Nambi Vijay, Bretler Monique, Smith Nicholas L., Peters Annette, et al. , Human molecular genetics, 2010 May 1, Volume 19, Issue 9, p.1863-72, (2010) Abstract
Associations between dietary patterns and flow cytometry-measured biomarkers of inflammation and cellular activation in the Atherosclerosis Risk in Communities (ARIC) Carotid Artery MRI Study., Nettleton, Jennifer A., Matijevic Nena, Follis Jack L., Folsom Aaron R., and Boerwinkle Eric , Atherosclerosis, 2010 Sep, Volume 212, Issue 1, p.260-7, (2010) Abstract
The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts., Bressler, Jan, Fornage Myriam, Hanis Craig L., Kao Wen Hong Linda, Lewis Cora E., McPherson Ruth, Dent Robert, Mosley Thomas H., Pennacchio Len A., and Boerwinkle Eric , BMC medical genetics, 2009, Volume 10, p.56, (2009) Abstract
Genome-wide identification of allelic expression in hypertensive rats., Dmitrieva, Renata I., Hinojos Cruz A., Grove Megan L., Bell Rebecca J., Boerwinkle Eric, Fornage Myriam, and Doris Peter A. , Circulation. Cardiovascular genetics, 2009 Apr, Volume 2, Issue 2, p.106-15, (2009) Abstract
Use of wrapper algorithms coupled with a random forests classifier for variable selection in large-scale genomic association studies., Rodin, Andrei S., Litvinenko Anatoliy, Klos Kathy, Morrison Alanna C., Woodage Trevor, Coresh Josef, and Boerwinkle Eric , Journal of computational biology : a journal of computational molecular cell biology, 2009 Dec, Volume 16, Issue 12, p.1705-18, (2009) Abstract
GOSR2 Lys67Arg is associated with hypertension in whites., Meyer, Tamra E., Shiffman Dov, Morrison Alanna C., Rowland Charles M., Louie Judy Z., Bare Lance A., Ross David A., Arellano Andre R., Chasman Daniel I., Ridker Paul M., et al. , American journal of hypertension, 2009 Feb, Volume 22, Issue 2, p.163-8, (2009) Abstract
Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts., Psaty, Bruce M., O'Donnell Christopher J., Gudnason Vilmundur, Lunetta Kathryn L., Folsom Aaron R., Rotter Jerome I., Uitterlinden André G., Harris Tamara B., Witteman Jacqueline C. M., and Boerwinkle Eric , Circulation. Cardiovascular genetics, 2009 Feb, Volume 2, Issue 1, p.73-80, (2009) Abstract
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans., Romeo, Stefano, Yin Wu, Kozlitina Julia, Pennacchio Len A., Boerwinkle Eric, Hobbs Helen H., and Cohen Jonathan C. , The Journal of clinical investigation, 2009 Jan, Volume 119, Issue 1, p.70-9, (2009) Abstract
Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure., Chung, Charles C., Shimmin Lawrence, Natarajan Sivamani, Hanis Craig L., Boerwinkle Eric, and Hixson James E. , The Journal of clinical endocrinology and metabolism, 2009 Jan, Volume 94, Issue 1, p.268-76, (2009) Abstract
Inferring population mutation rate and sequencing error rate using the SNP frequency spectrum in a sample of DNA sequences., Liu, Xiaoming, Maxwell Taylor J., Boerwinkle Eric, and Fu Yun-Xin , Molecular biology and evolution, 2009 Jul, Volume 26, Issue 7, p.1479-90, (2009) Abstract
SELP and SELPLG genetic variation is associated with cell surface measures of SELP and SELPLG: the Atherosclerosis Risk in Communities Carotid MRI Study., Volcik, Kelly A., Catellier Diane, Folsom Aaron R., Matijevic Nena, Wasserman Bruce, and Boerwinkle Eric , Clinical chemistry, 2009 Jun, Volume 55, Issue 6, p.1076-82, (2009) Abstract
Carbohydrate intake modifies associations between ANGPTL4[E40K] genotype and HDL-cholesterol concentrations in White men from the Atherosclerosis Risk in Communities (ARIC) study., Nettleton, Jennifer A., Volcik Kelly A., Hoogeveen Ron C., and Boerwinkle Eric , Atherosclerosis, 2009 Mar, Volume 203, Issue 1, p.214-20, (2009) Abstract
Gene by smoking interaction in hypertension: identification of a major quantitative trait locus on chromosome 15q for systolic blood pressure in Mexican-Americans., Montasser, May E., Shimmin Lawrence C., Hanis Craig L., Boerwinkle Eric, and Hixson James E. , Journal of hypertension, 2009 Mar, Volume 27, Issue 3, p.491-501, (2009) Abstract
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease., Guo, Dong-Chuan, Papke Christina L., Tran-Fadulu Van, Regalado Ellen S., Avidan Nili, Johnson Ralph Jay, Kim Dong H., Pannu Hariyadarshi, Willing Marcia C., Sparks Elizabeth, et al. , American journal of human genetics, 2009 May, Volume 84, Issue 5, p.617-27, (2009) Abstract
Kininogen gene (KNG) variation has a consistent effect on aldosterone response to antihypertensive drug therapy: the GERA study., Barbalic, Maja, Schwartz Gary L., Chapman Arlene B., Turner Stephen T., and Boerwinkle Eric , Physiological genomics, 2009 Sep 9, Volume 39, Issue 1, p.56-60, (2009) Abstract
Single nucleotide polymorphisms associated with coronary heart disease predict incident ischemic stroke in the atherosclerosis risk in communities study., Morrison, Alanna C., Bare Lance A., Luke May M., Pankow James S., Mosley Thomas H., Devlin James J., Willerson James T., and Boerwinkle Eric , Cerebrovascular diseases (Basel, Switzerland), 2008, Volume 26, Issue 4, p.420-4, (2008) Abstract
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

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