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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.


Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida., Agopian, A. J., Bhalla Angela D., Boerwinkle Eric, Finnell Richard H., Grove Megan L., Hixson James E., Shimmin Lawrence C., Sewda Anshuman, Stuart Colin, Zhong Yu, et al. , Birth defects research. Part A, Clinical and molecular teratology, 2013 Sep, Volume 97, Issue 9, p.597-601, (2013) Abstract
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations., Liu, Xiaoming, Jian Xueqiu, and Boerwinkle Eric , Human mutation, 2013 Sep, Volume 34, Issue 9, p.E2393-402, (2013) Abstract
Whole-genome sequence–based analysis of high-density lipoprotein cholesterol, Morrison, Alanna C., Voorman Arend, Johnson Andrew D., Liu Xiaoming, Yu Jin, Li Alexander, Muzny Donna, Yu Fuli, Rice Kenneth, Zhu Chengsong, et al. , Nature Genetics, 6/2013, Volume 45, Issue 8, p.899 - 901, (2013)
PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population., Li, Quan, Qu Hui-Qi, Rentfro Anne R., Grove Megan L., Mirza Shaper, Lu Yang, Hanis Craig L., Fallon Michael B., Boerwinkle Eric, Fisher-Hoch Susan P., et al. , Clinical and investigative medicine. Médecine clinique et experimentale, 2012, Volume 35, Issue 4, p.E237-45, (2012) Abstract
Population-based risk factors for elevated alanine aminotransferase in a South Texas Mexican-American population., Qu, Hui-Qi, Li Quan, Grove Megan L., Lu Yang, Pan Jen-Jung, Rentfro Anne R., Bickel Perry E., Fallon Michael B., Hanis Craig L., Boerwinkle Eric, et al. , Archives of medical research, 2012 Aug, Volume 43, Issue 6, p.482-8, (2012) Abstract
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions., Bamshad, Michael J., Shendure Jay A., Valle David, Hamosh Ada, Lupski James R., Gibbs Richard A., Boerwinkle Eric, Lifton Richard P., Gerstein Mark, Gunel Murat, et al. , American journal of medical genetics. Part A, 2012 Jul, Volume 158A, Issue 7, p.1523-5, (2012) Abstract
Patterns and rates of exonic de novo mutations in autism spectrum disorders., Neale, Benjamin M., Kou Yan, Liu Li, Ma'ayan Avi, Samocha Kaitlin E., Sabo Aniko, Lin Chiao-Feng, Stevens Christine, Wang Li-San, Makarov Vladimir, et al. , Nature, 2012 May 10, Volume 485, Issue 7397, p.242-5, (2012) Abstract
Atypical angiopoietin-like protein that regulates ANGPTL3., Quagliarini, Fabiana, Wang Yan, Kozlitina Julia, Grishin Nick V., Hyde Rhonda, Boerwinkle Eric, Valenzuela David M., Murphy Andrew J., Cohen Jonathan C., and Hobbs Helen H. , Proceedings of the National Academy of Sciences of the United States of America, 2012 Nov 27, Volume 109, Issue 48, p.19751-6, (2012) Abstract
Maternal and paternal age are jointly associated with childhood autism in Jamaica., Rahbar, Mohammad H., Samms-Vaughan Maureen, Loveland Katherine A., Pearson Deborah A., Bressler Jan, Chen Zhongxue, Ardjomand-Hessabi Manouchehr, Shakespeare-Pellington Sydonnie, Grove Megan L., Beecher Compton, et al. , Journal of autism and developmental disorders, 2012 Sep, Volume 42, Issue 9, p.1928-38, (2012) Abstract
The role of drinking water sources, consumption of vegetables and seafood in relation to blood arsenic concentrations of Jamaican children with and without Autism Spectrum Disorders., Rahbar, Mohammad H., Samms-Vaughan Maureen, Ardjomand-Hessabi Manouchehr, Loveland Katherine A., Dickerson Aisha S., Chen Zhongxue, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., Bloom Kari, et al. , The Science of the total environment, 2012 Sep 1, Volume 433, p.362-70, (2012) Abstract
Genome-wide association analysis of incident coronary heart disease (CHD) in African Americans: a short report., Barbalic, Maja, Reiner Alex P., Wu Chunyuan, Hixson James E., Franceschini Nora, Eaton Charles B., Heiss Gerardo, Couper David, Mosley Thomas, and Boerwinkle Eric , PLoS genetics, 2011 Aug, Volume 7, Issue 8, p.e1002199, (2011) Abstract
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions., Liu, Xiaoming, Jian Xueqiu, and Boerwinkle Eric , Human mutation, 2011 Aug, Volume 32, Issue 8, p.894-9, (2011) Abstract
Global DNA methylation and risk of subclinical atherosclerosis in young adults: the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study., Bressler, Jan, Shimmin Lawrence C., Boerwinkle Eric, and Hixson James E. , Atherosclerosis, 2011 Dec, Volume 219, Issue 2, p.958-62, (2011) Abstract
Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance., Kozlitina, Julia, Boerwinkle Eric, Cohen Jonathan C., and Hobbs Helen H. , Hepatology (Baltimore, Md.), 2011 Feb, Volume 53, Issue 2, p.467-74, (2011) Abstract
Is low-grade serous ovarian cancer part of the tumor spectrum of hereditary breast and ovarian cancer?, Vineyard, Marisa A., Daniels Molly S., Urbauer Diana L., Deavers Michael T., Sun Charlotte C., Boerwinkle Eric, Bodurka Diane C., Gershenson David M., Crawford Jessica, and Lu Karen H. , Gynecologic oncology, 2011 Feb, Volume 120, Issue 2, p.229-32, (2011) Abstract
Association studies for next-generation sequencing., Luo, Li, Boerwinkle Eric, and Xiong Momiao , Genome research, 2011 Jul, Volume 21, Issue 7, p.1099-108, (2011) Abstract
Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium., Fornage, Myriam, Debette Stephanie, Bis Joshua C., Schmidt Helena, Ikram Arfan M., Dufouil Carole, Sigurdsson Sigurdur, Lumley Thomas, DeStefano Anita L., Fazekas Franz, et al. , Annals of neurology, 2011 Jun, Volume 69, Issue 6, p.928-39, (2011) Abstract
High-resolution identity by descent mapping uncovers the genetic basis for blood pressure differences between spontaneously hypertensive rat lines., Bell, Rebecca, Herring Stacy M., Gokul Nisha, Monita Monique, Grove Megan L., Boerwinkle Eric, and Doris Peter A. , Circulation. Cardiovascular genetics, 2011 Jun, Volume 4, Issue 3, p.223-31, (2011) Abstract
Immunoglobulin locus associates with serum IgG levels and albuminuria., Herring, Stacy M., Gokul Nisha, Monita Monique, Bell Rebecca, Boerwinkle Eric, Wenderfer Scott E., Braun Michael C., and Doris Peter A. , Journal of the American Society of Nephrology : JASN, 2011 May, Volume 22, Issue 5, p.881-9, (2011) Abstract
Interaction of folate intake and the paraoxonase Q192R polymorphism with risk of incident coronary heart disease and ischemic stroke: the atherosclerosis risk in communities study., Luu, Hung N., Kingah Pascal L., North Kari, Boerwinkle Eric, and Volcik Kelly A. , Annals of epidemiology, 2011 Nov, Volume 21, Issue 11, p.815-23, (2011) Abstract
Systems biology data analysis methodology in pharmacogenomics., Rodin, Andrei S., Gogoshin Grigoriy, and Boerwinkle Eric , Pharmacogenomics, 2011 Sep, Volume 12, Issue 9, p.1349-60, (2011) Abstract
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders., Schaaf, Christian P., Sabo Aniko, Sakai Yasunari, Crosby Jacy, Muzny Donna, Hawes Alicia, Lewis Lora, Akbar Humeira, Varghese Robin, Boerwinkle Eric, et al. , Human molecular genetics, 2011 Sep 1, Volume 20, Issue 17, p.3366-75, (2011) Abstract
Clan genomics and the complex architecture of human disease., Lupski, James R., Belmont John W., Boerwinkle Eric, and Gibbs Richard A. , Cell, 2011 Sep 30, Volume 147, Issue 1, p.32-43, (2011) Abstract
Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study., Bressler, Jan, Kao Linda W. H., Pankow James S., and Boerwinkle Eric , PloS one, 2010, Volume 5, Issue 5, p.e10521, (2010) Abstract
Deep resequencing reveals excess rare recent variants consistent with explosive population growth., Coventry, Alex, Bull-Otterson Lara M., Liu Xiaoming, Clark Andrew G., Maxwell Taylor J., Crosby Jacy, Hixson James E., Rea Thomas J., Muzny Donna M., Lewis Lora R., et al. , Nature communications, 2010, Volume 1, p.131, (2010) Abstract

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