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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.


Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses., Campbell, Ian M., Gambin Tomasz, Jhanghiani Shalini, Grove Megan L., Veeraraghavan Narayanan, Muzny Donna, Shaw Chad A., Gibbs Richard A., Boerwinkle Eric, Yu Fuli, et al. , Human mutation, 2015 Dec 16, (2015) Abstract
Molecular diagnostic experience of whole-exome sequencing in adult patients., Posey, Jennifer E., Rosenfeld Jill A., James Regis A., Bainbridge Matthew, Niu Zhiyv, Wang Xia, Dhar Shweta, Wiszniewski Wojciech, Akdemir Zeynep H. C., Gambin Tomasz, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Dec 3, (2015) Abstract
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes., Yuan, Bo, Pehlivan Davut, Karaca Ender, Patel Nisha, Charng Wu-Lin, Gambin Tomasz, Gonzaga-Jauregui Claudia, Sutton Reid V., Yesil Gozde, Bozdogan Sevcan Tug, et al. , The Journal of clinical investigation, 2015 Feb, Volume 125, Issue 2, p.636-51, (2015) Abstract
Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families., Shetty, Priya B., Tang Hua, Feng Tao, Tayo Bamidele, Morrison Alanna C., Kardia Sharon L. R., Hanis Craig L., Arnett Donna K., Hunt Steven C., Boerwinkle Eric, et al. , Circulation. Cardiovascular genetics, 2015 Feb, Volume 8, Issue 1, p.106-13, (2015) Abstract
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949)., Davies, G., Armstrong N., Bis J. C., Bressler J., Chouraki V., Giddaluru S., Hofer E., Ibrahim-Verbaas C. A., Kirin M., Lahti J., et al. , Molecular psychiatry, 2015 Feb, Volume 20, Issue 2, p.183-92, (2015) Abstract
TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives., Chittani, Martina, Zaninello Roberta, Lanzani Chiara, Frau Francesca, Ortu Maria F., Salvi Erika, Fresu Giovanni, Citterio Lorena, Braga Daniele, Piras Daniela A., et al. , Journal of hypertension, 2015 Feb 18, (2015) Abstract
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction., Do, Ron, Stitziel Nathan O., Won Hong-Hee, Jørgensen Anders Berg, Duga Stefano, Angelica Merlini Pier, Kiezun Adam, Farrall Martin, Goel Anuj, Zuk Or, et al. , Nature, 2015 Feb 5, Volume 518, Issue 7537, p.102-6, (2015) Abstract
Multi-Ethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI., Verhaaren, Benjamin F. J., Debette Stéphanie, Bis Joshua C., Smith Jennifer A., Ikram Kamran M., Adams Hieab H., Beecham Ashley H., Rajan Kumar B., Lopez Lorna M., Barral Sandra, et al. , Circulation. Cardiovascular genetics, 2015 Feb 7, (2015) Abstract
Blood lead concentrations in Jamaican children with and without autism spectrum disorder., Rahbar, Mohammad H., Samms-Vaughan Maureen, Dickerson Aisha S., Loveland Katherine A., Ardjomand-Hessabi Manouchehr, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., Pearson Deborah A., and Boerwinkle Eric , International journal of environmental research and public health, 2015 Jan, Volume 12, Issue 1, p.83-105, (2015) Abstract
The amyloidogenic V122I transthyretin variant in elderly black Americans., Quarta, Cristina C., Buxbaum Joel N., Shah Amil M., Falk Rodney H., Claggett Brian, Kitzman Dalane W., Mosley Thomas H., Butler Kenneth R., Boerwinkle Eric, and Solomon Scott D. , The New England journal of medicine, 2015 Jan 1, Volume 372, Issue 1, p.21-9, (2015) Abstract
Coronary heart disease and genetic variants with low phospholipase A2 activity., Polfus, Linda M., Gibbs Richard A., and Boerwinkle Eric , The New England journal of medicine, 2015 Jan 15, Volume 372, Issue 3, p.295-6, (2015)
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease., Yu, Bing, Li Alexander H., Muzny Donna, Veeraraghavan Narayanan, de Vries Paul S., Bis Joshua C., Musani Solomon K., Alexander Danny, Morrison Alanna C., Franco Oscar H., et al. , Circulation. Cardiovascular genetics, 2015 Jan 8, (2015) Abstract
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities., Chong, Jessica X., Buckingham Kati J., Jhangiani Shalini N., Boehm Corinne, Sobreira Nara, Smith Joshua D., Harrell Tanya M., McMillin Margaret J., Wiszniewski Wojciech, Gambin Tomasz, et al. , American journal of human genetics, 2015 Jul 8, (2015) Abstract
Genetic overlap between diagnostic subtypes of ischemic stroke., Holliday, Elizabeth G., Traylor Matthew, Malik Rainer, Bevan Steve, Falcone Guido, Hopewell Jemma C., Cheng Yu-Ching, Cotlarciuc Ioana, Bis Joshua C., Boerwinkle Eric, et al. , Stroke; a journal of cerebral circulation, 2015 Mar, Volume 46, Issue 3, p.615-9, (2015) Abstract
Strategic transformation of population studies: recommendations of the working group on epidemiology and population sciences from the national heart, lung, and blood advisory council and board of external experts., Roger, Véronique L., Boerwinkle Eric, Crapo James D., Douglas Pamela S., Epstein Jonathan A., Granger Christopher B., Greenland Philip, Kohane Isaac, and Psaty Bruce M. , American journal of epidemiology, 2015 Mar 15, Volume 181, Issue 6, p.363-8, (2015) Abstract
Roger et Al. Respond to "future of population studies"., Roger, Véronique L., Boerwinkle Eric, Crapo James D., Douglas Pamela S., Epstein Jonathan A., Granger Christopher B., Greenland Philip, Kohane Isaac, and Psaty Bruce M. , American journal of epidemiology, 2015 Mar 15, Volume 181, Issue 6, p.372-3, (2015)
Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism., Bayram, Yavuz, Gulsuner Suleyman, Guran Tulay, Abaci Ayhan, Yesil Gozde, Gulsuner Hilal Unal, Atay Zeynep, Pierce Sarah B., Gambin Tomasz, Lee Ming, et al. , The Journal of clinical endocrinology and metabolism, 2015 Mar 16, p.jc20151150, (2015) Abstract
Factors associated with blood lead concentrations of children in Jamaica., Rahbar, Mohammad H., Samms-Vaughan Maureen, Dickerson Aisha S., Loveland Katherine A., Ardjomand-Hessabi Manouchehr, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., and Boerwinkle Eric , Journal of environmental science and health. Part A, Toxic/hazardous substances & environmental engineering, 2015 May 12, Volume 50, Issue 6, p.529-39, (2015) Abstract
Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction., Bainbridge, Matthew N., Davis Erica E., Choi Wen-Yee, Dickson Amy, Martinez Hugo R., Wang Min, Dinh Huyen, Muzny Donna, Pignatelli Ricardo, Katsanis Nicholas, et al. , Circulation. Cardiovascular genetics, 2015 May 29, (2015) Abstract
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair., Day, Felix R., Ruth Katherine S., Thompson Deborah J., Lunetta Kathryn L., Pervjakova Natalia, Chasman Daniel I., Stolk Lisette, Finucane Hilary K., Sulem Patrick, Bulik-Sullivan Brendan, et al. , Nature genetics, 2015 Nov, Volume 47, Issue 11, p.1294-303, (2015) Abstract
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Non-synonymous and Splice Site SNVs., Liu, Xiaoming, Wu Chunlei, Li Chang, and Boerwinkle Eric , Human mutation, 2015 Nov 10, (2015) Abstract
Whole-Exome Sequencing in Familial Parkinson Disease., Farlow, Janice L., Robak Laurie A., Hetrick Kurt, Bowling Kevin, Boerwinkle Eric, Coban-Akdemir Zeynep H., Gambin Tomasz, Gibbs Richard A., Gu Shen, Jain Preti, et al. , JAMA neurology, 2015 Nov 23, p.1-8, (2015) Abstract
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease., Karaca, Ender, Harel Tamar, Pehlivan Davut, Jhangiani Shalini N., Gambin Tomasz, Akdemir Zeynep Coban, Gonzaga-Jauregui Claudia, Erdin Serkan, Bayram Yavuz, Campbell Ian M., et al. , Neuron, 2015 Nov 4, Volume 88, Issue 3, p.499-513, (2015) Abstract
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF., Huffman, Jennifer E., de Vries Paul S., Morrison Alanna C., Sabater-Lleal Maria, Kacprowski Tim, Auer Paul L., Brody Jennifer A., Chasman Daniel I., Chen Ming-Huei, Guo Xiuqing, et al. , Blood, 2015 Sep 10, Volume 126, Issue 11, p.e19-29, (2015) Abstract
WGSA: an annotation pipeline for human genome sequencing studies., Liu, Xiaoming, White Simon, Peng Bo, Johnson Andrew D., Brody Jennifer A., Li Alexander H., Huang Zhuoyi, Carroll Andrew, Wei Peng, Gibbs Richard, et al. , Journal of medical genetics, 2015 Sep 22, (2015)

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