Kottgen, Anna, Kao, Wen, Hwang, Shih-Jen, Boerwinkle, Eric, Yang, Qiong, Levy, Daniel, ...
Abstract Background The Framingham Heart Study (FHS) recently obtained initial results from the first genome-wide association scan for renal traits. The study of 70,987 single nucleotide...
Kardia, Sharon LR, Greene, M Todd, Boerwinkle, Eric, Turner, Stephen T, Kullo, Iftikhar J
Abstract Background Atherosclerotic peripheral arterial disease (PAD) affects 8–10 million people in the United States and is associated with a marked impairment in quality of life and an increased...
Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD (2008)
Knowles, Joshua W, Assimes, Themistocles L, Boerwinkle, Eric, Fortmann, Stephen P, Go, Alan, Grove, Megan L, ...
Abstract Background The lectin-like oxidized LDL receptor LOX-1 (encoded by OLR1 ) is believed to play a key role in atherogenesis and some reports suggest an association of OLR1 polymorphisms with...
Kardia, Sharon LR, Sun, Yan V, Hamon, Sara C, Barkley, Ruth, Boerwinkle, Eric, Turner, Stephen T
Abstract Background As part of the NHLBI Family Blood Pressure Program, the Genetic Epidemiology Network of Arteriopathy (GENOA) recruited 575 sibships (n = 1583 individuals) from Rochester, MN who...
A common allele on chromosome 9 associated with coronary heart disease (2007)
McPherson, Ruth, Pertsemlidis, Alexander, Kavaslar, Nihan, Stewart, Alexandre, Roberts, Robert, Cox, David R., ...
Payseur, Bret A., Clark, Andrew G., Hixson, James, Boerwinkle, Eric, Sing, Charles F.
Most tests of association between DNA sequence variation and quantitative phenotypes in samples of randomly chosen individuals rely on specification of genotypic strata followed by comparison of...
Laramie, Jason M, Wilk, Jemma B, Hunt, Steven C, Ellison, R Curtis, Chakravarti, Aravinda, Boerwinkle, Eric, ...
Abstract Background Elevated resting heart rate has been shown in multiple studies to be a strong predictor of cardiovascular disease. Previous family studies have shown a significant heritable...
Ethnicity and Human Genetic Linkage Maps (2005)
Jorgenson, Eric, Tang, Hua, Gadde, Maya, Province, Mike, Leppert, Mark, Kardia, Sharon, ...
Human genetic linkage maps are based on rates of recombination across the genome. These rates in humans vary by the sex of the parent from whom alleles are inherited, by chromosomal position, and by...
Tang, Hua, Quertermous, Tom, Rodriguez, Beatriz, Kardia, Sharon LR, Zhu, Xiaofeng, Brown, Andrew, ...
We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension...
Moderate mutation rate in the SARS coronavirus genome and its implications (2004)
Zhao, Zhongming, Li, Haipeng, Wu, Xiaozhuang, Zhong, Yixi, Zhang, Keqin, Zhang, Ya-Ping, ...
Abstract Background The outbreak of severe acute respiratory syndrome (SARS) caused a severe global epidemic in 2003 which led to hundreds of deaths and many thousands of hospitalizations. The virus...
Bielak, Lawrence F., Peyser, Patricia A., Boerwinkle, Eric, Turner, Stephen T., Sheedy, Patrick F., Ellsworth, Darrell L.
Development and progression of atherosclerosis involves recruitment and binding of circulating leukocytes to areas of inflammation within the vascular endothelium mediated by a diverse array of...
Boerwinkle, Eric, Turner, Stephen T., Fornage, Myriam, Sing, Charles F.
A variant of the angiotensinogen gene, M235T, has been associated with essential hypertension in selected subjects from Paris, France and Salt Lake City, Utah. In the present report, we studied a...
Kuick, Rork, Boerwinkle, Eric, Hanash, Samir M., Sing, Charles F.
For the development of valid algorithms for matching protein spots between two-dimensional gels, it is essential that one has an understanding of the relative roles of the many sources of variability...
Boerwinkle, Eric, Turner, Stephen T., Weinshilboum, Richard, Johnson, Mark, Richelson, Elliott, Sing, Charles F.
Numerous studies of sodium-lithium countertransport (Na-Li CNT) have reported higher rates in essential hypertensives versus normotensive controls. We studied the distribution and the mode of...
Zhao, Zhongming, Boerwinkle, Eric
We investigated substitution patterns and neighboring-nucleotide effects for 2,576,903 single nucleotide polymorphisms (SNPs) publicly available through the National Center for Biotechnology...
Sequence Diversity and Large-Scale Typing of SNPs in the Human Apolipoprotein E Gene
Nickerson, Deborah A., Taylor, Scott L., Fullerton, Stephanie M., Weiss, Kenneth M., Clark, Andrew G., Stengård, Jari H., ...
A common strategy for genotyping large samples begins with the characterization of human single nucleotide polymorphisms (SNPs) by sequencing candidate regions in a small sample for SNP discovery....
Moderate mutation rate in the SARS coronavirus genome and its implications
Zhao, Zhongming, Li, Haipeng, Wu, Xiaozhuang, Zhong, Yixi, Zhang, Keqin, Zhang, Ya-Ping, ...
RODIN, ANDREI, MOSLEY, THOMAS H., CLARK, ANDREW G., SING, CHARLES F., BOERWINKLE, ERIC
There is a critical need for data-mining methods that can identify SNPs that predict among-individual variation in a phenotype of interest and reverse-engineer the biological network of relationships...
Carlson, Christopher S., Aldred, Shelley Force, Lee, Philip K., Tracy, Russell P., Schwartz, Stephen M., Rieder, Mark, ...
Elevated plasma levels of C-reactive protein (CRP), an inflammation-sensitive marker, have emerged as an important predictor of future cardiovascular disease and metabolic abnormalities in apparently...
Fullerton, Stephanie M., Clark, Andrew G., Weiss, Kenneth M., Nickerson, Deborah A., Taylor, Scott L., Stengård, Jari H., ...
Three common protein isoforms of apolipoprotein E (apoE), encoded by the ε2, ε3, and ε4 alleles of the APOE gene, differ in their association with cardiovascular and Alzheimer's disease risk. To...
Recombinational and Mutational Hotspots within the Human Lipoprotein Lipase Gene
Templeton, Alan R., Clark, Andrew G., Weiss, Kenneth M., Nickerson, Deborah A., Boerwinkle, Eric, Sing, Charles F.
Here an analysis is presented of the roles of recombination and mutation in shaping previously determined haplotype variation in 9.7 kb of genomic DNA sequence from the human lipoprotein lipase gene...
Contribution of regulatory and structural variations in APOE to predicting dyslipidemia
Stengård, Jari H., Kardia, Sharon L. R., Hamon, Sara C., Frikke-Schmidt, Ruth, Tybjærg-Hansen, Anne, Salomaa, Veikko, ...
The objective of this study was to evaluate 1) whether non-coding single nucleotide polymorphisms (non-cSNP) in the apolipoprotein E gene (APOE) identified by resequencing studies contribute to...
Laramie, Jason M, Wilk, Jemma B, Hunt, Steven C, Ellison, R Curtis, Chakravarti, Aravinda, Boerwinkle, Eric, ...
Clark, R. L., Boerwinkle, Eric, Brewer, G. J., Sing, C. F.
We have employed a "level crossing" strategy to study the primary effects of an enzyme polymorphism in Drosophila mercatorum. This strategy consists of following genetic differences across...
Templeton, Alan R., Boerwinkle, Eric, Sing, Charles F.
Because some genes have been cloned that have a known biochemical or physiological function, genetic variation can be measured in a population at loci that may directly influence a phenotype of...
Tree Scanning: A Method for Using Haplotype Trees in Phenotype/Genotype Association Studies
Templeton, Alan R., Maxwell, Taylor, Posada, David, Stengård, Jari H., Boerwinkle, Eric, Sing, Charles F.
We use evolutionary trees of haplotypes to study phenotypic associations by exhaustively examining all possible biallelic partitions of the tree, a technique we call tree scanning. If the first scan...
Zhao, Zhongming, Boerwinkle, Eric
We investigated substitution patterns and neighboring-nucleotide effects for 2,576,903 single nucleotide polymorphisms (SNPs) publicly available through the National Center for Biotechnology...
Sequence Diversity and Large-Scale Typing of SNPs in the Human Apolipoprotein E Gene
Nickerson, Deborah A., Taylor, Scott L., Fullerton, Stephanie M., Weiss, Kenneth M., Clark, Andrew G., Stengård, Jari H., ...
A common strategy for genotyping large samples begins with the characterization of human single nucleotide polymorphisms (SNPs) by sequencing candidate regions in a small sample for SNP discovery....
Moderate mutation rate in the SARS coronavirus genome and its implications
Zhao, Zhongming, Li, Haipeng, Wu, Xiaozhuang, Zhong, Yixi, Zhang, Keqin, Zhang, Ya-Ping, ...
Generalized T2 Test for Genome Association Studies
Xiong, Momiao, Zhao, Jinying, Boerwinkle, Eric
Recent progress in the development of single-nucleotide polymorphism (SNP) maps within genes and across the genome provides a valuable tool for fine-mapping and has led to the suggestion of...
Stengård, Jari H., Clark, Andrew G., Weiss, Kenneth M., Kardia, Sharon, Nickerson, Deborah A., Salomaa, Veikko, ...
Apolipoprotein E (ApoE) is a major constituent of many lipoprotein particles. Previous genetic studies have focused on six genotypes defined by three alleles, denoted ε2, ε3, and ε4, encoded by...
Tang, Hua, Quertermous, Tom, Rodriguez, Beatriz, Kardia, Sharon L. R., Zhu, Xiaofeng, Brown, Andrew, ...
We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension...
Ethnicity and Human Genetic Linkage Maps
Jorgenson, Eric, Tang, Hua, Gadde, Maya, Province, Mike, Leppert, Mark, Kardia, Sharon, ...
Human genetic linkage maps are based on rates of recombination across the genome. These rates in humans vary by the sex of the parent from whom alleles are inherited, by chromosomal position, and by...
Clark, R. L., Boerwinkle, Eric, Brewer, G. J., Sing, C. F.
We have employed a "level crossing" strategy to study the primary effects of an enzyme polymorphism in Drosophila mercatorum. This strategy consists of following genetic differences across...
Templeton, Alan R., Boerwinkle, Eric, Sing, Charles F.
Because some genes have been cloned that have a known biochemical or physiological function, genetic variation can be measured in a population at loci that may directly influence a phenotype of...
An Entropy-Based Statistic for Genomewide Association Studies
Zhao, Jinying, Boerwinkle, Eric, Xiong, Momiao
Efficient genotyping methods and the availability of a large collection of single-nucleotide polymorphisms provide valuable tools for genetic studies of human disease. The standard χ2 statistic for...
Carlson, Christopher S., Aldred, Shelley Force, Lee, Philip K., Tracy, Russell P., Schwartz, Stephen M., Rieder, Mark, ...
Elevated plasma levels of C-reactive protein (CRP), an inflammation-sensitive marker, have emerged as an important predictor of future cardiovascular disease and metabolic abnormalities in apparently...
Fullerton, Stephanie M., Clark, Andrew G., Weiss, Kenneth M., Nickerson, Deborah A., Taylor, Scott L., Stengård, Jari H., ...
Three common protein isoforms of apolipoprotein E (apoE), encoded by the ε2, ε3, and ε4 alleles of the APOE gene, differ in their association with cardiovascular and Alzheimer's disease risk. To...
Recombinational and Mutational Hotspots within the Human Lipoprotein Lipase Gene
Templeton, Alan R., Clark, Andrew G., Weiss, Kenneth M., Nickerson, Deborah A., Boerwinkle, Eric, Sing, Charles F.
Here an analysis is presented of the roles of recombination and mutation in shaping previously determined haplotype variation in 9.7 kb of genomic DNA sequence from the human lipoprotein lipase gene...
Laramie, Jason M, Wilk, Jemma B, Hunt, Steven C, Ellison, R Curtis, Chakravarti, Aravinda, Boerwinkle, Eric, ...
Tree Scanning: A Method for Using Haplotype Trees in Phenotype/Genotype Association Studies
Templeton, Alan R., Maxwell, Taylor, Posada, David, Stengård, Jari H., Boerwinkle, Eric, Sing, Charles F.
We use evolutionary trees of haplotypes to study phenotypic associations by exhaustively examining all possible biallelic partitions of the tree, a technique we call tree scanning. If the first scan...
A scan statistic for identifying chromosomal patterns of SNP association
Sun, Yan V., Levin, Albert M., Boerwinkle, Eric, Robertson, Henry, Kardia, Sharon L.R.
We have developed a single nucleotide polymorphism (SNP) association scan statistic that takes into account the complex distribution of the human genome variation in the identification of chromosomal...
Kardia, Sharon LR, Sun, Yan V, Hamon, Sara C, Barkley, Ruth Ann, Boerwinkle, Eric, Turner, Stephen T
Understanding the accuracy of statistical haplotype inference with sequence data of known phase
AndrÉs, Aida M., Clark, Andrew G., Shimmin, Lawrence, Boerwinkle, Eric, Sing, Charles F., Hixson, James E.
Statistical methods for haplotype inference from multi-site genotypes of unrelated individuals have important application in association studies and population genetics. Understanding the factors...
β2 adrenergic receptor 5′ haplotypes influence promoter activity
Johnatty, Sharon E, Abdellatif, Maha, Shimmin, Lawrence, Clark, Richard B, Boerwinkle, Eric
Transcriptional control of the human β2 adrenergic receptor gene (ADRB2) predominantly resides within a 549 base pair region immediately 5′ to the start of translation. Within this region, four...
Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD
Knowles, Joshua W, Assimes, Themistocles L, Boerwinkle, Eric, Fortmann, Stephen P, Go, Alan, Grove, Megan L, ...
Garovic, Vesna D, Joyner, Michael J, Dietz, Niki M, Boerwinkle, Eric, Turner, Stephen T
Polymorphisms in the gene encoding the β2-adrenoceptor have been associated with interindividual differences in blood pressure and the diagnosis of hypertension. A common polymorphism resulting in a...
Carlson, Christopher S., Aldred, Shelley Force, Lee, Philip K., Tracy, Russell P., Schwartz, Stephen M., Rieder, Mark, ...
Reproducibility of genotypes as measured by the affymetrix GeneChip® 100K Human Mapping Array set
Fridley, Brooke L., Turner, Stephen T., Chapman, Arlene B., Rodin, Andrei S., Boerwinkle, Eric, Bailey, Kent R.
Genotyping errors that are undetected in genome-wide association studies using single nucleotide polymorphisms (SNPs) may degrade the likelihood of detecting true positive associations. To estimate...
Keating, Brendan J., Tischfield, Sam, Murray, Sarah S., Bhangale, Tushar, Price, Thomas S., Glessner, Joseph T., ...
A wealth of genetic associations for cardiovascular and metabolic phenotypes in humans has been accumulating over the last decade, in particular a large number of loci derived from recent genome wide...