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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.


POGZ truncating alleles cause syndromic intellectual disability., White, Janson, Beck Christine R., Harel Tamar, Posey Jennifer E., Jhangiani Shalini N., Tang Sha, Farwell Kelly D., Powis Zöe, Mendelsohn Nancy J., Baker Janice A., et al. , Genome medicine, 2016, Volume 8, Issue 1, p.3, (2016) Abstract
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations., Lalani, Seema R., Liu Pengfei, Rosenfeld Jill A., Watkin Levi B., Chiang Theodore, Leduc Magalie S., Zhu Wenmiao, Ding Yan, Pan Shujuan, Vetrini Francesco, et al. , American journal of human genetics, 2016 Jan 19, (2016) Abstract
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations., Wang, Min, Beck Christine R., English Adam C., Meng Qingchang, Buhay Christian, Han Yi, Doddapaneni Harsha V., Yu Fuli, Boerwinkle Eric, Lupski James R., et al. , BMC genomics, 2015, Volume 16, Issue 1, p.214, (2015) Abstract
Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study., Bressler, Jan, Franceschini Nora, Demerath Ellen W., Mosley Thomas H., Folsom Aaron R., and Boerwinkle Eric , BMC medical genetics, 2015, Volume 16, p.52, (2015) Abstract
Rare variants analysis using penalization methods for whole genome sequence data., Yazdani, Akram, Yazdani Azam, and Boerwinkle Eric , BMC bioinformatics, 2015, Volume 16, p.405, (2015) Abstract
Metabolomics and Incidence of Atrial Fibrillation in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study., Alonso, Alvaro, Yu Bing, Qureshi Waqas T., Grams Morgan E., Selvin Elizabeth, Soliman Elsayed Z., Loehr Laura R., Chen Lin Y., Agarwal Sunil K., Alexander Danny, et al. , PloS one, 2015, Volume 10, Issue 11, p.e0142610, (2015) Abstract
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions., Yu, Fuli, Lu Jian, Liu Xiaoming, Gazave Elodie, Chang Diana, Raj Srilakshmi, Hunter-Zinck Haley, Blekhman Ran, Arbiza Leonardo, Van Hout Cris, et al. , PloS one, 2015, Volume 10, Issue 3, p.e0121644, (2015) Abstract
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility., Wessel, Jennifer, Chu Audrey Y., Willems Sara M., Wang Shuai, Yaghootkar Hanieh, Brody Jennifer A., Dauriz Marco, Hivert Marie-France, Raghavan Sridharan, Lipovich Leonard, et al. , Nature communications, 2015, Volume 6, p.5897, (2015) Abstract
FBN1 contributing to familial congenital diaphragmatic hernia., Beck, Tyler F., Campeau Philippe M., Jhangiani Shalini N., Gambin Tomasz, Li Alexander H., Abo-Zahrah Reem, Jordan Valerie K., Hernandez-Garcia Andres, Wiszniewski Wojciech K., Muzny Donna, et al. , American journal of medical genetics. Part A, 2015 Apr, Volume 167, Issue 4, p.831-6, (2015) Abstract
Interaction between GSTT1 and GSTP1 allele variants as a risk modulating-factor for autism spectrum disorders., Rahbar, Mohammad H., Samms-Vaughan Maureen, Ma Jianzhong, Bressler Jan, Loveland Katherine A., Hessabi Manouchehr, Dickerson Aisha S., Grove Megan L., Shakespeare-Pellington Sydonnie, Beecher Compton, et al. , Research in autism spectrum disorders, 2015 Apr 1, Volume 12, p.1-9, (2015) Abstract
Assessing structural variation in a personal genome-towards a human reference diploid genome., English, Adam C., Salerno William J., Hampton Oliver A., Gonzaga-Jauregui Claudia, Ambreth Shruthi, Ritter Deborah I., Beck Christine R., Davis Caleb F., Dahdouli Mahmoud, Ma Singer, et al. , BMC genomics, 2015 Apr 11, Volume 16, Issue 1, p.286, (2015) Abstract
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies., Dong, Chengliang, Wei Peng, Jian Xueqiu, Gibbs Richard, Boerwinkle Eric, Wang Kai, and Liu Xiaoming , Human molecular genetics, 2015 Apr 15, Volume 24, Issue 8, p.2125-37, (2015) Abstract
A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study., Weng, Lu-Chen, Cushman Mary, Pankow James S., Basu Saonli, Boerwinkle Eric, Folsom Aaron R., and Tang Weihong , Human molecular genetics, 2015 Apr 15, Volume 24, Issue 8, p.2401-8, (2015) Abstract
PLD3 variants in population studies., van der Lee, Sven J., Holstege Henne, Wong Tsz Hang, Jakobsdottir Johanna, Bis Joshua C., Chouraki Vincent, van Rooij Jeroen G. J., Grove Megan L., Smith Albert V., Amin Najaf, et al. , Nature, 2015 Apr 2, Volume 520, Issue 7545, p.E2-3, (2015)
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis., Watkin, Levi B., Jessen Birthe, Wiszniewski Wojciech, Vece Timothy J., Jan Max, Sha Youbao, Thamsen Maike, Santos-Cortez Regie L. P., Lee Kwanghyuk, Gambin Tomasz, et al. , Nature genetics, 2015 Apr 20, (2015) Abstract
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease., Li, Alexander H., Morrison Alanna C., Kovar Christie, Cupples Adrienne L., Brody Jennifer A., Polfus Linda M., Yu Bing, Metcalf Ginger, Muzny Donna, Veeraraghavan Narayanan, et al. , Nature genetics, 2015 Apr 27, (2015) Abstract
Lipoprotein associated phospholipase A2 activity, apolipoprotein C3 loss-of-function variants and cardiovascular disease: The Atherosclerosis Risk In Communities Study., Pokharel, Yashashwi, Sun Wensheng, Polfus Linda M., Folsom Aaron R., Heiss Gerardo, Sharrett Richey A., Boerwinkle Eric, Ballantyne Christie M., and Hoogeveen Ron C. , Atherosclerosis, 2015 Aug, Volume 241, Issue 2, p.641-8, (2015) Abstract
Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci., Demerath, Ellen W., Guan Weihua, Grove Megan L., Aslibekyan Stella, Mendelson Michael, Zhou Yi-Hui, Hedman Åsa K., Sandling Johanna K., Li Li-An, Irvin Marguerite R., et al. , Human molecular genetics, 2015 Aug 1, Volume 24, Issue 15, p.4464-79, (2015) Abstract
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy., Gonzaga-Jauregui, Claudia, Harel Tamar, Gambin Tomasz, Kousi Maria, Griffin Laurie B., Francescatto Ludmila, Ozes Burcak, Karaca Ender, Jhangiani Shalini N., Bainbridge Matthew N., et al. , Cell reports, 2015 Aug 18, Volume 12, Issue 7, p.1169-83, (2015) Abstract
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci., Gaulton, Kyle J., Ferreira Teresa, Lee Yeji, Raimondo Anne, Mägi Reedik, Reschen Michael E., Mahajan Anubha, Locke Adam, William Rayner N., Robertson Neil, et al. , Nature genetics, 2015 Dec, Volume 47, Issue 12, p.1415-25, (2015) Abstract
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk., Yu, Bing, Pulit Sara L., Hwang Shih-Jen, Brody Jennifer A., Amin Najaf, Auer Paul L., Bis Joshua C., Boerwinkle Eric, Burke Gregory L., Chakravarti Aravinda, et al. , Circulation. Cardiovascular genetics, 2015 Dec 11, (2015) Abstract
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

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