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Eric Boerwinkle, Ph.D.

Associate Director, Baylor College of Medicine Human Genome Sequencing Center

Eric Boerwinkle, Ph.D.Contact information

eboerwin@bcm.edu

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.

Publications

Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study., Franceschini, Nora, Hu Yijuan, Reiner Alex P., Buyske Steven, Nalls Mike, Yanek Lisa R., Li Yun, Hindorff Lucia A., Cole Shelley A., Howard Barbara V., et al. , PloS one, 2014, Volume 9, Issue 12, p.e113203, (2014) Abstract
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (2014) Abstract
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., Sheehan, Vivien A., Crosby Jacy R., Sabo Aniko, Mortier Nicole A., Howard Thad A., Muzny Donna M., Dugan-Perez Shannon, Aygun Banu, Nottage Kerri A., Boerwinkle Eric, et al. , PloS one, 2014, Volume 9, Issue 10, p.e110740, (2014) Abstract
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline., Reid, Jeffrey G., Carroll Andrew, Veeraraghavan Narayanan, Dahdouli Mahmoud, Sundquist Andreas, English Adam, Bainbridge Matthew, White Simon, Salerno William, Buhay Christian, et al. , BMC bioinformatics, 2014, Volume 15, p.30, (2014) Abstract
Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts., Zhou, Zhou, Yu Fuli, Buchanan Ashley, Fu Yuanyuan, Campos Marco, Wu Kenneth K., Chambless Lloyd E., Folsom Aaron R., Boerwinkle Eric, and Dong Jing-fei , PloS one, 2014, Volume 9, Issue 1, p.e84810, (2014) Abstract
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (2014) Abstract
Metabolomic patterns and alcohol consumption in African Americans in the Atherosclerosis Risk in Communities Study., Zheng, Yan, Yu Bing, Alexander Danny, Steffen Lyn M., Nettleton Jennifer A., and Boerwinkle Eric , The American journal of clinical nutrition, 2014 Apr 23, (2014) Abstract
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function., Karaca, Ender, Weitzer Stefan, Pehlivan Davut, Shiraishi Hiroshi, Gogakos Tasos, Hanada Toshikatsu, Jhangiani Shalini N., Wiszniewski Wojciech, Withers Marjorie, Campbell Ian M., et al. , Cell, 2014 Apr 24, Volume 157, Issue 3, p.636-50, (2014) Abstract
Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: The Family Blood Pressure Program., Simino, Jeannette, Kume Rezart, Kraja Aldi T., Turner Stephen T., Hanis Craig L., Sheu Wayne H. - H., Chen Yii-Der Ida, Jaquish Cashell E., Cooper Richard S., Chakravarti Aravinda, et al. , Atherosclerosis, 2014 Apr 26, Volume 235, Issue 1, p.84-93, (2014) Abstract
Serum Metabolomic Profiling and Incident CKD among African Americans., Yu, Bing, Zheng Yan, Nettleton Jennifer A., Alexander Danny, Coresh Josef, and Boerwinkle Eric , Clinical journal of the American Society of Nephrology : CJASN, 2014 Aug 7, Volume 9, Issue 8, p.1410-7, (2014) Abstract
Genetic markers associated with plasma protein C level in African Americans: the atherosclerosis risk in communities (ARIC) study., Munir, Shahzeb M., Weng Lu-Chen, Tang Weihong, Basu Saonli, Pankow James S., Matijevic Nena, Cushman Mary, Boerwinkle Eric, and Folsom Aaron R. , Genetic epidemiology, 2014 Dec, Volume 38, Issue 8, p.709-13, (2014) Abstract
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
Genetic Determinants Influencing Human Serum Metabolome among African Americans., Yu, Bing, Zheng Yan, Alexander Danny, Morrison Alanna C., Coresh Josef, and Boerwinkle Eric , PLoS genetics, 2014 Mar, Volume 10, Issue 3, p.e1004212, (2014) Abstract
Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Lin, Honghuang, Sinner Moritz F., Brody Jennifer A., Arking Dan E., Lunetta Kathryn L., Rienstra Michiel, Lubitz Steven A., Magnani Jared W., Sotoodehnia Nona, McKnight Barbara, et al. , Heart rhythm : the official journal of the Heart Rhythm Society, 2014 Mar, Volume 11, Issue 3, p.452-7, (2014) Abstract
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea., Xia, Fan, Bainbridge Matthew N., Tan Tiong Yang, Wangler Michael F., Scheuerle Angela E., Zackai Elaine H., Harr Margaret H., Sutton Reid V., Nalam Roopa L., Zhu Wenmiao, et al. , American journal of human genetics, 2014 May 1, Volume 94, Issue 5, p.784-9, (2014) Abstract
Epistasis analysis for quantitative traits by functional regression model., Zhang, Futao, Boerwinkle Eric, and Xiong Momiao , Genome research, 2014 May 6, (2014) Abstract
Human Metabolome Associates With Dietary Intake Habits Among African Americans in the Atherosclerosis Risk in Communities Study., Zheng, Yan, Yu Bing, Alexander Danny, Steffen Lyn M., and Boerwinkle Eric , American journal of epidemiology, 2014 May 6, (2014) Abstract
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome., Lalani, Seema R., Zhang Jing, Schaaf Christian P., Brown Chester W., Magoulas Pilar, Tsai Anne Chun-Hui, El-Gharbawy Areeg, Wierenga Klaas J., Bartholomew Dennis, Fong Chin-To, et al. , American journal of human genetics, 2014 Nov 6, Volume 95, Issue 5, p.579-83, (2014) Abstract
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing., Yang, Yaping, Muzny Donna M., Xia Fan, Niu Zhiyv, Person Richard, Ding Yan, Ward Patricia, Braxton Alicia, Wang Min, Buhay Christian, et al. , JAMA, 2014 Oct 18, (2014) Abstract
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy., Riveiro-Álvarez, Rosa, Xie Yajing Angela, López-Martínez Miguel-Ángel, Gambin Tomasz, Pérez-Carro Raquel, Avila-Fernández Almudena, López-Molina María-Isabel, Zernant Jana, Jhangiani Shalini, Muzny Donna, et al. , JAMA ophthalmology, 2014 Oct 30, (2014) Abstract
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome., Bayram, Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N., Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H., et al. , American journal of medical genetics. Part A, 2014 Sep, Volume 164A, Issue 9, p.2328-34, (2014) Abstract
A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases., Yamamoto, Shinya, Jaiswal Manish, Charng Wu-Lin, Gambin Tomasz, Karaca Ender, Mirzaa Ghayda, Wiszniewski Wojciech, Sandoval Hector, Haelterman Nele A., Xiong Bo, et al. , Cell, 2014 Sep 25, Volume 159, Issue 1, p.200-14, (2014) Abstract
Transethnic meta-analysis suggests genetic variation in the HEME pathway influences potassium response in patients treated with hydrochlorothiazide., Del-Aguila, J. L., Cooper-DeHoff R. M., Chapman A. B., Gums J. G., Beitelshees A. L., Bailey K., Turner S. T., Johnson J. A., and Boerwinkle E. , The pharmacogenomics journal, 2014 Sep 9, (2014) Abstract
A framework for the interpretation of de novo mutation in human disease, Samocha, Kaitlin E., Robinson Elise B., Sanders Stephan J., Stevens Christine, Sabo Aniko, McGrath Lauren M., Kosmicki Jack A., Rehnström Karola, Mallick Swapan, Kirby Andrew, et al. , Nature Genetics, 8/2014, Volume 46, Issue 9, p.944 - 950, (2014)
Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes, Li, Quan, Liu Xiaoming, Gibbs Richard A., Boerwinkle Eric, Polychronakos Constantin, and Qu Hui-Qi , PLoS ONE, 8/2014, Volume 9, Issue 8, p.e104452, (2014)


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