Search

Your search keyword '"Weinstock, Joshua"' showing total 165 results
Start Over Author "Weinstock, Joshua"
165 results on '"Weinstock, Joshua"'

1. Gene regulatory network inference from CRISPR perturbations in primary CD4+ T cells elucidates the genomic basis of immune disease.

Author

Weinstock, Joshua, Arce, Maya, Freimer, Jacob, Ota, Mineto, Marson, Alexander, Battle, Alexis, and Pritchard, Jonathan

Subjects
CRISPR, GWAS, RNA-seq, T cells, gene regulatory networks, immunology, inbornb errors of immunity, network inference, Humans, Gene Regulatory Networks, Genome-Wide Association Study, CD4-Positive T-Lymphocytes, Immune System Diseases, Bayes Theorem, Clustered Regularly Interspaced Short Palindromic Repeats, Transcription Factors, CRISPR-Cas Systems, Histone-Lysine N-Methyltransferase
Abstract

The effects of genetic variation on complex traits act mainly through changes in gene regulation. Although many genetic variants have been linked to target genes in cis, the trans-regulatory cascade mediating their effects remains largely uncharacterized. Mapping trans-regulators based on natural genetic variation has been challenging due to small effects, but experimental perturbations offer a complementary approach. Using CRISPR, we knocked out 84 genes in primary CD4+ T cells, targeting inborn error of immunity (IEI) disease transcription factors (TFs) and TFs without immune disease association. We developed a novel gene network inference method called linear latent causal Bayes (LLCB) to estimate the network from perturbation data and observed 211 regulatory connections between genes. We characterized programs affected by the TFs, which we associated with immune genome-wide association study (GWAS) genes, finding that JAK-STAT family members are regulated by KMT2A, an epigenetic regulator. These analyses reveal the trans-regulatory cascades linking GWAS genes to signaling pathways.

Published
2024

2. Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate

Author

Mack, Taralynn M, Raddatz, Michael A, Pershad, Yash, Nachun, Daniel C, Taylor, Kent D, Guo, Xiuqing, Shuldiner, Alan R, O’Connell, Jeffrey R, Kenny, Eimear E, Loos, Ruth JF, Redline, Susan, Cade, Brian E, Psaty, Bruce M, Bis, Joshua C, Brody, Jennifer A, Silverman, Edwin K, Yun, Jeong H, Cho, Michael H, DeMeo, Dawn L, Levy, Daniel, Johnson, Andrew D, Mathias, Rasika A, Yanek, Lisa R, Heckbert, Susan R, Smith, Nicholas L, Wiggins, Kerri L, Raffield, Laura M, Carson, April P, Rotter, Jerome I, Rich, Stephen S, Manichaikul, Ani W, Gu, C Charles, Chen, Yii-Der Ida, Lee, Wen-Jane, Shoemaker, M Benjamin, Roden, Dan M, Kooperberg, Charles, Auer, Paul L, Desai, Pinkal, Blackwell, Thomas W, Smith, Albert V, Reiner, Alexander P, Jaiswal, Siddhartha, Weinstock, Joshua S, and Bick, Alexander G

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Hematology, Genetics, Biotechnology, Aging, Human Genome, Stem Cell Research, Precision Medicine, Aetiology, 2.1 Biological and endogenous factors, Cancer, Good Health and Well Being, Clinical sciences
Abstract

Clonal hematopoiesis of indeterminate potential (CHIP), whereby somatic mutations in hematopoietic stem cells confer a selective advantage and drive clonal expansion, not only correlates with age but also confers increased risk of morbidity and mortality. Here, we leverage genetically predicted traits to identify factors that determine CHIP clonal expansion rate. We used the passenger-approximated clonal expansion rate method to quantify the clonal expansion rate for 4,370 individuals in the National Heart, Lung, and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) cohort and calculated polygenic risk scores for DNA methylation aging, inflammation-related measures and circulating protein levels. Clonal expansion rate was significantly associated with both genetically predicted and measured epigenetic clocks. No associations were identified with inflammation-related lab values or diseases and CHIP expansion rate overall. A proteome-wide search identified predicted circulating levels of myeloid zinc finger 1 and anti-Müllerian hormone as associated with an increased CHIP clonal expansion rate and tissue inhibitor of metalloproteinase 1 and glycine N-methyltransferase as associated with decreased CHIP clonal expansion rate. Together, our findings identify epigenetic and proteomic patterns associated with the rate of hematopoietic clonal expansion.

Published
2024

3. Determinants of mosaic chromosomal alteration fitness.

Author

Pershad, Yash, Mack, Taralynn, Poisner, Hannah, Jakubek, Yasminka, Stilp, Adrienne, Mitchell, Braxton, Lewis, Joshua, Boerwinkle, Eric, Loos, Ruth, Chami, Nathalie, Wang, Zhe, Barnes, Kathleen, Pankratz, Nathan, Fornage, Myriam, Redline, Susan, Psaty, Bruce, Bis, Joshua, Shojaie, Ali, Silverman, Edwin, Cho, Michael, Yun, Jeong, DeMeo, Dawn, Levy, Daniel, Johnson, Andrew, Mathias, Rasika, Taub, Margaret, Arnett, Donna, North, Kari, Raffield, Laura, Carson, April, Doyle, Margaret, Rich, Stephen, Guo, Xiuqing, Cox, Nancy, Roden, Dan, Franceschini, Nora, Desai, Pinkal, Reiner, Alex, Auer, Paul, Scheet, Paul, Jaiswal, Siddhartha, Weinstock, Joshua, Bick, Alexander, and Rotter, Jerome

Subjects
Humans, Mosaicism, Chromosome Aberrations, Clonal Hematopoiesis, Male, Female, Genome-Wide Association Study, Janus Kinase 2, Telomerase, Loss of Heterozygosity, Cross-Sectional Studies, Mutation, Middle Aged, Hematopoietic Stem Cells, Polymorphism, Single Nucleotide, Aged
Abstract

Clonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion. These driver mutations can be single nucleotide variants in cancer driver genes or larger structural rearrangements called mosaic chromosomal alterations (mCAs). The factors that influence the variations in mCA fitness and ultimately result in different clonal expansion rates are not well understood. We used the Passenger-Approximated Clonal Expansion Rate (PACER) method to estimate clonal expansion rate as PACER scores for 6,381 individuals in the NHLBI TOPMed cohort with gain, loss, and copy-neutral loss of heterozygosity mCAs. Our mCA fitness estimates, derived by aggregating per-individual PACER scores, were correlated (R2 = 0.49) with an alternative approach that estimated fitness of mCAs in the UK Biobank using population-level distributions of clonal fraction. Among individuals with JAK2 V617F clonal hematopoiesis of indeterminate potential or mCAs affecting the JAK2 gene on chromosome 9, PACER score was strongly correlated with erythrocyte count. In a cross-sectional analysis, genome-wide association study of estimates of mCA expansion rate identified a TCL1A locus variant associated with mCA clonal expansion rate, with suggestive variants in NRIP1 and TERT.

Published
2024

4. Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate

Author

Mack, Taralynn M., Raddatz, Michael A., Pershad, Yash, Nachun, Daniel C., Taylor, Kent D., Guo, Xiuqing, Shuldiner, Alan R., O’Connell, Jeffrey R., Kenny, Eimear E., Loos, Ruth J. F., Redline, Susan, Cade, Brian E., Psaty, Bruce M., Bis, Joshua C., Brody, Jennifer A., Silverman, Edwin K., Yun, Jeong H., Cho, Michael H., DeMeo, Dawn L., Levy, Daniel, Johnson, Andrew D., Mathias, Rasika A., Yanek, Lisa R., Heckbert, Susan R., Smith, Nicholas L., Wiggins, Kerri L., Raffield, Laura M., Carson, April P., Rotter, Jerome I., Rich, Stephen S., Manichaikul, Ani W., Gu, C. Charles, Chen, Yii-Der Ida, Lee, Wen-Jane, Shoemaker, M. Benjamin, Roden, Dan M., Kooperberg, Charles, Auer, Paul L., Desai, Pinkal, Blackwell, Thomas W., Smith, Albert V., Reiner, Alexander P., Jaiswal, Siddhartha, Weinstock, Joshua S., and Bick, Alexander G.

Published
2024
Full Text
View/download PDF

5. Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes

Author

Keener, Rebecca, Chhetri, Surya B, Connelly, Carla J, Taub, Margaret A, Conomos, Matthew P, Weinstock, Joshua, Ni, Bohan, Strober, Benjamin, Aslibekyan, Stella, Auer, Paul L, Barwick, Lucas, Becker, Lewis C, Blangero, John, Bleecker, Eugene R, Brody, Jennifer A, Cade, Brian E, Celedon, Juan C, Chang, Yi-Cheng, Cupples, L Adrienne, Custer, Brian, Freedman, Barry I, Gladwin, Mark T, Heckbert, Susan R, Hou, Lifang, Irvin, Marguerite R, Isasi, Carmen R, Johnsen, Jill M, Kenny, Eimear E, Kooperberg, Charles, Minster, Ryan L, Naseri, Take, Viali, Satupa’itea, Nekhai, Sergei, Pankratz, Nathan, Peyser, Patricia A, Taylor, Kent D, Telen, Marilyn J, Wu, Baojun, Yanek, Lisa R, Yang, Ivana V, Albert, Christine, Arnett, Donna K, Ashley-Koch, Allison E, Barnes, Kathleen C, Bis, Joshua C, Blackwell, Thomas W, Boerwinkle, Eric, Burchard, Esteban G, Carson, April P, Chen, Zhanghua, Chen, Yii-Der Ida, Darbar, Dawood, de Andrade, Mariza, Ellinor, Patrick T, Fornage, Myriam, Gelb, Bruce D, Gilliland, Frank D, He, Jiang, Islam, Talat, Kaab, Stefan, Kardia, Sharon LR, Kelly, Shannon, Konkle, Barbara A, Kumar, Rajesh, Loos, Ruth JF, Martinez, Fernando D, McGarvey, Stephen T, Meyers, Deborah A, Mitchell, Braxton D, Montgomery, Courtney G, North, Kari E, Palmer, Nicholette D, Peralta, Juan M, Raby, Benjamin A, Redline, Susan, Rich, Stephen S, Roden, Dan, Rotter, Jerome I, Ruczinski, Ingo, Schwartz, David, Sciurba, Frank, Shoemaker, M Benjamin, Silverman, Edwin K, Sinner, Moritz F, Smith, Nicholas L, Smith, Albert V, Tiwari, Hemant K, Vasan, Ramachandran S, Weiss, Scott T, Williams, L Keoki, Zhang, Yingze, Ziv, Elad, Raffield, Laura M, Reiner, Alexander P, Arvanitis, Marios, Greider, Carol W, Mathias, Rasika A, and Battle, Alexis

Subjects
Biological Sciences, Genetics, Human Genome, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Generic health relevance, Humans, Genome-Wide Association Study, Telomere, K562 Cells, Telomere Homeostasis, Polymorphism, Single Nucleotide, Gene Expression Regulation, CRISPR-Cas Systems, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology and Hemostasis Working Group, TOPMed Structural Variation Working Group
Abstract

Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a multi-ancestry meta-analysis of 211,369 individuals and identified five novel association signals. Enrichment analyses of chromatin state and cell-type heritability suggested that blood/immune cells are the most relevant cell type to examine telomere length association signals. We validated specific GWAS associations by overexpressing KBTBD6 or POP5 and demonstrated that both lengthened telomeres. CRISPR/Cas9 deletion of the predicted causal regions in K562 blood cells reduced expression of these genes, demonstrating that these loci are related to transcriptional regulation of KBTBD6 and POP5. Our results demonstrate the utility of telomere length GWAS in the identification of telomere length regulation mechanisms and validate KBTBD6 and POP5 as genes affecting telomere length regulation.

Published
2024

6. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

Author

Weinstock, Joshua S, Laurie, Cecelia A, Broome, Jai G, Taylor, Kent D, Guo, Xiuqing, Shuldiner, Alan R, O’Connell, Jeffrey R, Lewis, Joshua P, Boerwinkle, Eric, Barnes, Kathleen C, Chami, Nathalie, Kenny, Eimear E, Loos, Ruth JF, Fornage, Myriam, Redline, Susan, Cade, Brian E, Gilliland, Frank D, Chen, Zhanghua, Gauderman, W James, Kumar, Rajesh, Grammer, Leslie, Schleimer, Robert P, Psaty, Bruce M, Bis, Joshua C, Brody, Jennifer A, Silverman, Edwin K, Yun, Jeong H, Qiao, Dandi, Weiss, Scott T, Lasky-Su, Jessica, DeMeo, Dawn L, Palmer, Nicholette D, Freedman, Barry I, Bowden, Donald W, Cho, Michael H, Vasan, Ramachandran S, Johnson, Andrew D, Yanek, Lisa R, Becker, Lewis C, Kardia, Sharon, He, Jiang, Kaplan, Robert, Heckbert, Susan R, Smith, Nicholas L, Wiggins, Kerri L, Arnett, Donna K, Irvin, Marguerite R, Tiwari, Hemant, Correa, Adolfo, Raffield, Laura M, Gao, Yan, de Andrade, Mariza, Rotter, Jerome I, Rich, Stephen S, Manichaikul, Ani W, Konkle, Barbara A, Johnsen, Jill M, Wheeler, Marsha M, Custer, Brian S, Duggirala, Ravindranath, Curran, Joanne E, Blangero, John, Gui, Hongsheng, Xiao, Shujie, Williams, L Keoki, Meyers, Deborah A, Li, Xingnan, Ortega, Victor, McGarvey, Stephen, Gu, C Charles, Chen, Yii-Der Ida, Lee, Wen-Jane, Shoemaker, M Benjamin, Darbar, Dawood, Roden, Dan, Albert, Christine, Kooperberg, Charles, Desai, Pinkal, Blackwell, Thomas W, Abecasis, Goncalo R, Smith, Albert V, Kang, Hyun M, Mathias, Rasika, Natarajan, Pradeep, Jaiswal, Siddhartha, Reiner, Alexander P, Bick, Alexander G, and Consortium, NHLBI Trans-Omics for Precision Medicine

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Lung, Genetic Testing, Clinical Research, Biotechnology, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Humans, Middle Aged, Hematopoiesis, Mutation, Germ-Line Mutation, Mutation, Missense, Phenotype, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Abstract

Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision Medicine blood whole genomes from 37 cohorts and identified 7131 non-missense somatic mutations that are recurrently mutated in at least 50 individuals. These recurrent non-missense somatic mutations (RNMSMs) are not clearly explained by other clonal phenomena such as clonal hematopoiesis. RNMSM prevalence increased with age, with an average 50-year-old having 27 RNMSMs. Inherited germline variation associated with RNMSM acquisition. These variants were found in genes involved in adaptive immune function, proinflammatory cytokine production, and lymphoid lineage commitment. In addition, the presence of eight specific RNMSMs associated with blood cell traits at effect sizes comparable to Mendelian genetic mutations. Overall, we found that somatic mutations in blood are an unexpectedly common phenomenon with ancestry-specific determinants and human health consequences.

Published
2023

7. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.

Author

Weinstock, Joshua, Gopakumar, Jayakrishnan, Burugula, Bala, Uddin, Md, Jahn, Nikolaus, Belk, Julia, Bouzid, Hind, Daniel, Bence, Miao, Zhuang, Ly, Nghi, Mack, Taralynn, Luna, Sofia, Prothro, Katherine, Mitchell, Shaneice, Laurie, Cecelia, Broome, Jai, Taylor, Kent, Guo, Xiuqing, Sinner, Moritz, von Falkenhausen, Aenne, Kääb, Stefan, Shuldiner, Alan, OConnell, Jeffrey, Lewis, Joshua, Boerwinkle, Eric, Barnes, Kathleen, Chami, Nathalie, Kenny, Eimear, Loos, Ruth, Fornage, Myriam, Hou, Lifang, Lloyd-Jones, Donald, Redline, Susan, Cade, Brian, Psaty, Bruce, Bis, Joshua, Brody, Jennifer, Silverman, Edwin, Yun, Jeong, Qiao, Dandi, Palmer, Nicholette, Freedman, Barry, Bowden, Donald, Cho, Michael, DeMeo, Dawn, Vasan, Ramachandran, Yanek, Lisa, Becker, Lewis, Kardia, Sharon, Peyser, Patricia, He, Jiang, Rienstra, Michiel, Van der Harst, Pim, Kaplan, Robert, Heckbert, Susan, Smith, Nicholas, Wiggins, Kerri, Arnett, Donna, Irvin, Marguerite, Tiwari, Hemant, Cutler, Michael, Knight, Stacey, Muhlestein, J, Correa, Adolfo, Raffield, Laura, Gao, Yan, de Andrade, Mariza, Rotter, Jerome, Rich, Stephen, Tracy, Russell, Konkle, Barbara, Johnsen, Jill, Wheeler, Marsha, Smith, J, Melander, Olle, Nilsson, Peter, Custer, Brian, Duggirala, Ravindranath, Curran, Joanne, Blangero, John, McGarvey, Stephen, Williams, L, Xiao, Shujie, Yang, Mao, Gu, C, Chen, Yii-Der, Lee, Wen-Jane, Kane, John, Pullinger, Clive, Shoemaker, M, Darbar, Dawood, Roden, Dan, Albert, Christine, Kooperberg, Charles, Zhou, Ying, Manson, JoAnn, Desai, Pinkal, Johnson, Andrew, Mathias, Rasika, and Blackwell, Thomas

Subjects
Animals, Humans, Mice, Alleles, Clonal Hematopoiesis, Genome-Wide Association Study, Hematopoiesis, Hematopoietic Stem Cells, Mutation, Promoter Regions, Genetic
Abstract

Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis1. These lesions are precursors for blood cancers2-6, but the basis of their fitness advantage remains largely unknown, partly owing to a paucity of large cohorts in which the clonal expansion rate has been assessed by longitudinal sampling. Here, to circumvent this limitation, we developed a method to infer the expansion rate from data from a single time point. We applied this method to 5,071 people with clonal haematopoiesis. A genome-wide association study revealed that a common inherited polymorphism in the TCL1A promoter was associated with a slower expansion rate in clonal haematopoiesis overall, but the effect varied by driver gene. Those carrying this protective allele exhibited markedly reduced growth rates or prevalence of clones with driver mutations in TET2, ASXL1, SF3B1 and SRSF2, but this effect was not seen in clones with driver mutations in DNMT3A. TCL1A was not expressed in normal or DNMT3A-mutated HSCs, but the introduction of mutations in TET2 or ASXL1 led to the expression of TCL1A protein and the expansion of HSCs in vitro. The protective allele restricted TCL1A expression and expansion of mutant HSCs, as did experimental knockdown of TCL1A expression. Forced expression of TCL1A promoted the expansion of human HSCs in vitro and mouse HSCs in vivo. Our results indicate that the fitness advantage of several commonly mutated driver genes in clonal haematopoiesis may be mediated by TCL1A activation.

Published
2023

8. Clonal haematopoiesis and risk of chronic liver disease.

Author

Dichtel, Laura, Griffin, Gabriel, Uddin, Md, Gibson, Christopher, Kovalcik, Veronica, Lin, Amy, McConkey, Marie, Vromman, Amelie, Sellar, Rob, Kim, Peter, Agrawal, Mridul, Weinstock, Joshua, Long, Michelle, Yu, Bing, Banerjee, Rajarshi, Nicholls, Rowan, Dennis, Andrea, Kelly, Matt, Loh, Po-Ru, McCarroll, Steve, Boerwinkle, Eric, Vasan, Ramachandran, Jaiswal, Siddhartha, Johnson, Andrew, Chung, Raymond, Corey, Kathleen, Levy, Daniel, Ballantyne, Christie, Ebert, Benjamin, Natarajan, Pradeep, Wong, Waihay, Emdin, Connor, Bick, Alexander, Zekavat, Seyedeh, Niroula, Abhishek, and Pirruccello, James

Subjects
Animals, Mice, Clonal Hematopoiesis, Hepatitis, Inflammation, Liver Cirrhosis, Non-alcoholic Fatty Liver Disease, Disease Susceptibility, Odds Ratio, Disease Progression
Abstract

Chronic liver disease is a major public health burden worldwide1. Although different aetiologies and mechanisms of liver injury exist, progression of chronic liver disease follows a common pathway of liver inflammation, injury and fibrosis2. Here we examined the association between clonal haematopoiesis of indeterminate potential (CHIP) and chronic liver disease in 214,563 individuals from 4 independent cohorts with whole-exome sequencing data (Framingham Heart Study, Atherosclerosis Risk in Communities Study, UK Biobank and Mass General Brigham Biobank). CHIP was associated with an increased risk of prevalent and incident chronic liver disease (odds ratio = 2.01, 95% confidence interval (95% CI) [1.46, 2.79]; P

Published
2023

9. Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease

Author

Uddin, MD Mesbah, Nguyen, Ngoc Quynh H, Yu, Bing, Brody, Jennifer A, Pampana, Akhil, Nakao, Tetsushi, Fornage, Myriam, Bressler, Jan, Sotoodehnia, Nona, Weinstock, Joshua S, Honigberg, Michael C, Nachun, Daniel, Bhattacharya, Romit, Griffin, Gabriel K, Chander, Varuna, Gibbs, Richard A, Rotter, Jerome I, Liu, Chunyu, Baccarelli, Andrea A, Chasman, Daniel I, Whitsel, Eric A, Kiel, Douglas P, Murabito, Joanne M, Boerwinkle, Eric, Ebert, Benjamin L, Jaiswal, Siddhartha, Floyd, James S, Bick, Alexander G, Ballantyne, Christie M, Psaty, Bruce M, Natarajan, Pradeep, and Conneely, Karen N

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Cardiovascular, Stem Cell Research - Nonembryonic - Non-Human, Aging, Heart Disease - Coronary Heart Disease, Atherosclerosis, Human Genome, Hematology, Stem Cell Research, Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Cancer, Good Health and Well Being, Clonal Hematopoiesis, Coronary Artery Disease, DNA Methylation, Hematopoiesis, Hematopoietic Stem Cells, Humans
Abstract

Age-related changes to the genome-wide DNA methylation (DNAm) pattern observed in blood are well-documented. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by the age-related acquisition and expansion of leukemogenic mutations in hematopoietic stem cells (HSCs), is associated with blood cancer and coronary artery disease (CAD). Epigenetic regulators DNMT3A and TET2 are the two most frequently mutated CHIP genes. Here, we present results from an epigenome-wide association study for CHIP in 582 Cardiovascular Health Study (CHS) participants, with replication in 2655 Atherosclerosis Risk in Communities (ARIC) Study participants. We show that DNMT3A and TET2 CHIP have distinct and directionally opposing genome-wide DNAm association patterns consistent with their regulatory roles, albeit both promoting self-renewal of HSCs. Mendelian randomization analyses indicate that a subset of DNAm alterations associated with these two leading CHIP genes may promote the risk for CAD.

Published
2022

10. Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential

Author

Nakao, Tetsushi, Bick, Alexander G, Taub, Margaret A, Zekavat, Seyedeh M, Uddin, Md M, Niroula, Abhishek, Carty, Cara L, Lane, John, Honigberg, Michael C, Weinstock, Joshua S, Pampana, Akhil, Gibson, Christopher J, Griffin, Gabriel K, Clarke, Shoa L, Bhattacharya, Romit, Assimes, Themistocles L, Emery, Leslie S, Stilp, Adrienne M, Wong, Quenna, Broome, Jai, Laurie, Cecelia A, Khan, Alyna T, Smith, Albert V, Blackwell, Thomas W, Codd, Veryan, Nelson, Christopher P, Yoneda, Zachary T, Peralta, Juan M, Bowden, Donald W, Irvin, Marguerite R, Boorgula, Meher, Zhao, Wei, Yanek, Lisa R, Wiggins, Kerri L, Hixson, James E, Gu, C Charles, Peloso, Gina M, Roden, Dan M, Reupena, Muagututi’a S, Hwu, Chii-Min, DeMeo, Dawn L, North, Kari E, Kelly, Shannon, Musani, Solomon K, Bis, Joshua C, Lloyd-Jones, Donald M, Johnsen, Jill M, Preuss, Michael, Tracy, Russell P, Peyser, Patricia A, Qiao, Dandi, Desai, Pinkal, Curran, Joanne E, Freedman, Barry I, Tiwari, Hemant K, Chavan, Sameer, Smith, Jennifer A, Smith, Nicholas L, Kelly, Tanika N, Hidalgo, Bertha, Cupples, L Adrienne, Weeks, Daniel E, Hawley, Nicola L, Minster, Ryan L, Deka, Ranjan, Naseri, Take T, de las Fuentes, Lisa, Raffield, Laura M, Morrison, Alanna C, Vries, Paul S, Ballantyne, Christie M, Kenny, Eimear E, Rich, Stephen S, Whitsel, Eric A, Cho, Michael H, Shoemaker, M Benjamin, Pace, Betty S, Blangero, John, Palmer, Nicholette D, Mitchell, Braxton D, Shuldiner, Alan R, Barnes, Kathleen C, Redline, Susan, Kardia, Sharon LR, Abecasis, Gonçalo R, Becker, Lewis C, Heckbert, Susan R, He, Jiang, Post, Wendy, Arnett, Donna K, Vasan, Ramachandran S, Darbar, Dawood, Weiss, Scott T, McGarvey, Stephen T, de Andrade, Mariza, Chen, Yii-Der Ida, Kaplan, Robert C, Meyers, Deborah A, Custer, Brian S, and Correa, Adolfo

Subjects
Cardiovascular, Genetics, Aging, Heart Disease, Heart Disease - Coronary Heart Disease, Human Genome, Atherosclerosis, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Samoan Obesity, Lifestyle and Genetic Adaptations Study (OLaGA) Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Abstract

Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and diverse malignancies. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by expansion of hematopoietic cells bearing leukemogenic mutations, predisposes both hematologic malignancy and CAD. TERT (which encodes telomerase reverse transcriptase) is the most significantly associated germline locus for CHIP in genome-wide association studies. Here, we investigated the relationship between CHIP, LTL, and CAD in the Trans-Omics for Precision Medicine (TOPMed) program (n = 63,302) and UK Biobank (n = 47,080). Bidirectional Mendelian randomization studies were consistent with longer genetically imputed LTL increasing propensity to develop CHIP, but CHIP then, in turn, hastens to shorten measured LTL (mLTL). We also demonstrated evidence of modest mediation between CHIP and CAD by mLTL. Our data promote an understanding of potential causal relationships across CHIP and LTL toward prevention of CAD.

Published
2022

11. Clonal hematopoiesis is associated with protection from Alzheimer’s disease

Author

Bouzid, Hind, Belk, Julia A., Jan, Max, Qi, Yanyan, Sarnowski, Chloé, Wirth, Sara, Ma, Lisa, Chrostek, Matthew R., Ahmad, Herra, Nachun, Daniel, Yao, Winnie, Beiser, Alexa, Bick, Alexander G., Bis, Joshua C., Fornage, Myriam, Longstreth, Jr., William T., Lopez, Oscar L., Natarajan, Pradeep, Psaty, Bruce M., Satizabal, Claudia L., Weinstock, Joshua, Larson, Eric B., Crane, Paul K., Keene, C. Dirk, Seshadri, Sudha, Satpathy, Ansuman T., Montine, Thomas J., and Jaiswal, Siddhartha

Published
2023
Full Text
View/download PDF

12. A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels

Author

Abe, Namiko, Abecasis, Gonçalo, Aguet, Francois, Albert, Christine, Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Deborah, Ardlie, Kristin, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Ayas, Najib, Balasubramanian, Adithya, Barnard, John, Barnes, Kathleen, Barr, R. Graham, Barron-Casella, Emily, Barwick, Lucas, Beaty, Terri, Beck, Gerald, Becker, Diane, Becker, Lewis, Beer, Rebecca, Beitelshees, Amber, Benjamin, Emelia, Benos, Takis, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Blue, Nathan, Boerwinkle, Eric, Bowden, Donald W., Bowler, Russell, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Brown, Deborah, Bunting, Karen, Burchard, Esteban, Bustamante, Carlos, Buth, Erin, Cade, Brian, Cardwell, Jonathan, Carey, Vincent, Carrier, Julie, Carson, April P., Carty, Cara, Casaburi, Richard, Casas Romero, Juan P, Casella, James, Castaldi, Peter, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Chung, Ren-Hua, Clish, Clary, Comhair, Suzy, Conomos, Matthew, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L. Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, de las Fuentes, Lisa, de Vries, Paul, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Dugan-Perez, Shannon, Duggirala, Ravi, Durda, Jon Peter, Dutcher, Susan K., Eaton, Charles, Ekunwe, Lynette, El Boueiz, Adel, Ellinor, Patrick, Emery, Leslie, Erzurum, Serpil, Farber, Charles, Farek, Jesse, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Gelb, Bruce, Geraci, Mark, Germer, Soren, Gerszten, Robert, Ghosh, Auyon, Gibbs, Richard, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Graw, Sharon, Gray, Kathryn J., Grine, Daniel, Gross, Colin, Gu, C. Charles, Guan, Yue, Guo, Xiuqing, Gupta, Namrata, Haessler, Jeff, Hall, Michael, Han, Yi, Hanly, Patrick, Harris, Daniel, Hawley, Nicola L., He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hobbs, Brian, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Irvin, Marguerite Ryan, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Jiwon, Lee, Sandra, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Xiaohui, Li, Yun, Lin, Henry, Lin, Honghuang, Lin, Xihong, Liu, Simin, Liu, Yongmei, Liu, Yu, Loos, Ruth J. F., Lubitz, Steven, Lunetta, Kathryn, Luo, James, Magalang, Ulysses, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, Mathias, Rasika, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, McGoldrick, Daniel, McHugh, Caitlin, McNeil, Becky, Mei, Hao, Meigs, James, Menon, Vipin, Mestroni, Luisa, Metcalf, Ginger, Meyers, Deborah A, Mignot, Emmanuel, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton D., Moll, Matt, Momin, Zeineen, Montasser, May E., Montgomery, Courtney, Muzny, Donna, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nekhai, Sergei, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nickerson, Deborah, Nkechinyere, Osuji, North, Kari, O'Connell, Jeff, O'Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pack, Allan, Paik, David T., Palmer, Nicholette, Pankow, James, Papanicolaou, George, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Lawrence S, Pleiness, Jacob, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Rajendran, Mahitha, Ramachandran, Vasan S., Rao, D. C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Reeves, Catherine, Regan, Elizabeth, Reiner, Alex, Reupena, Muagututi‘a Sefuiva, Rice, Ken, Rich, Stephen, Robillard, Rebecca, Robine, Nicolas, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sabino, Ester Cerdeira, Saleheen, Danish, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay G., Santibanez, Jireh, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Seidman, Jonathan, Sériès, Frédéric, Sheehan, Vivien, Sherman, Stephanie L., Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Shoemaker, M. Benjamin, Silver, Brian, Silverman, Edwin, Skomro, Robert, Smith, Albert Vernon, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Snyder, Michael, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent D., Taylor, Matthew, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tishkoff, Sarah, Tiwari, Hemant, Tong, Catherine, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, Van Den Berg, David, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Wang, Jiongming, Watson, Karol, Watt, Jennifer, Weeks, Daniel E., Weinstock, Joshua, Weir, Bruce, Weiss, Scott T, Weng, Lu-Chen, Wessel, Jennifer, Willer, Cristen, Williams, Kayleen, Williams, L. Keoki, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Joseph, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yu, Ketian, Zekavat, Seyedeh Maryam, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Ziv, Elad, Zody, Michael, Zoellner, Sebastian, Lindstrom, Sara, Wang, Lu, Smith, Erin N., Gordon, William, van Hylckama Vlieg, Astrid, Brody, Jennifer A., Pattee, Jack W., Haessler, Jeffrey, Brumpton, Ben M., Chasman, Daniel I., Suchon, Pierre, Chen, Ming-Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L., MacDonald, James, Braekkan, Sigrid K., Armasu, Sebastian M., Pankratz, Nathan, Jackson, Rabecca D., Nielsen, Jonas B., Giulianini, Franco, Puurunen, Marja K., Ibrahim, Manal, Heckbert, Susan R., Bammler, Theo K., Frazer, Kelly A., McCauley, Bryan M., Taylor, Kent, Pankow, James S., Reiner, Alexander P., Gabrielsen, Maiken E., Deleuze, Jean-François, O'Donnell, Chris J., Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R., Heit, John A., Psaty, Bruce M., Tang, Weihong, Hveem, Kristian, Ridker, Paul M., Morange, Pierre-Emmanuel, Johnson, Andrew D., Kabrhel, Christopher, AlexandreTrégouët, David, Smith, Nicholas L., de Vries, Paul S., Reventun, Paula, Brown, Michael R., Heath, Adam S., Huffman, Jennifer E., Le, Ngoc-Quynh, Bebo, Allison, Temprano-Sagrera, Gerard, Raffield, Laura M., Ozel, Ayse Bilge, Thibord, Florian, Lewis, Joshua P., Rodriguez, Benjamin A. T., Polasek, Ozren, Yanek, Lisa R., Carrasquilla, German D., Marioni, Riccardo E., Kleber, Marcus E., Trégouët, David-Alexandre, Yao, Jie, Li-Gao, Ruifang, Joshi, Peter K., Trompet, Stella, Martinez-Perez, Angel, Ghanbari, Mohsen, Howard, Tom E., Reiner, Alex P., Arvanitis, Marios, Ryan, Kathleen A., Bartz, Traci M., Rudan, Igor, Faraday, Nauder, Linneberg, Allan, Davies, Gail, Delgado, Graciela E., Klaric, Lucija, Noordam, Raymond, van Rooij, Frank, Curran, Joanne E., Wheeler, Marsha M., Osburn, William O., O'Connell, Jeffrey R., Beswick, Andrew, Kolcic, Ivana, Souto, Juan Carlos, Becker, Lewis C., Hansen, Torben, Doyle, Margaret F., Harris, Sarah E., Moissl, Angela P., Rich, Stephen S., Campbell, Harry, Stott, David J., Soria, Jose Manuel, de Maat, Moniek P. M., Brody, Lawrence C., Auer, Paul L., Ben-Shlomo, Yoav, Hayward, Caroline, Mathias, Rasika A., Kilpeläinen, Tuomas O., Lange, Leslie A., Cox, Simon R., März, Winfried, Rotter, Jerome I., Mook-Kanamori, Dennis O., Wilson, James F., van der Harst, Pim, Jukema, J. Wouter, Ikram, M. Arfan, Desch, Karl C., Sabater-Lleal, Maria, Lowenstein, Charles J., and Morrison, Alanna C.

Published
2024
Full Text
View/download PDF

13. Clonal hematopoiesis in sickle cell disease.

Author

Liggett, L, Cato, Liam, Weinstock, Joshua, Zhang, Yingze, Nouraie, S, Gladwin, Mark, Garrett, Melanie, Ashley-Koch, Allison, Telen, Marilyn, Custer, Brian, Kelly, Shannon, Dinardo, Carla, Sabino, Ester, Loureiro, Paula, Carneiro-Proietti, Anna, Maximo, Cláudia, Reiner, Alexander, Abecasis, Gonçalo, Williams, David, Natarajan, Pradeep, Bick, Alexander, and Sankaran, Vijay

Subjects
Hematology, Leukemias, Anemia, Sickle Cell, Clonal Hematopoiesis, Female, Humans, Male, Whole Genome Sequencing
Abstract

BACKGROUNDCurative gene therapies for sickle cell disease (SCD) are currently undergoing clinical evaluation. The occurrence of myeloid malignancies in these trials has prompted safety concerns. Individuals with SCD are predisposed to myeloid malignancies, but the underlying causes remain undefined. Clonal hematopoiesis (CH) is a premalignant condition that also confers significant predisposition to myeloid cancers. While it has been speculated that CH may play a role in SCD-associated cancer predisposition, limited data addressing this issue have been reported.METHODSHere, we leveraged 74,190 whole-genome sequences to robustly study CH in SCD. Somatic mutation calling methods were used to assess CH in all samples and comparisons between individuals with and without SCD were performed.RESULTSWhile we had sufficient power to detect a greater than 2-fold increased rate of CH, we found no detectable variation in rate or clone properties between individuals affected by SCD and controls. The rate of CH in individuals with SCD was unaltered by hydroxyurea use.CONCLUSIONSWe did not observe an increased risk for acquiring detectable CH in SCD, at least as measured by whole-genome sequencing. These results should help guide ongoing efforts and further studies that seek to better define the risk factors underlying myeloid malignancy predisposition in SCD and help ensure that curative therapies can be more safely applied.FUNDINGNew York Stem Cell Foundation and the NIH.

Published
2022

14. Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

Author

Taub, Margaret A, Conomos, Matthew P, Keener, Rebecca, Iyer, Kruthika R, Weinstock, Joshua S, Yanek, Lisa R, Lane, John, Miller-Fleming, Tyne W, Brody, Jennifer A, Raffield, Laura M, McHugh, Caitlin P, Jain, Deepti, Gogarten, Stephanie M, Laurie, Cecelia A, Keramati, Ali, Arvanitis, Marios, Smith, Albert V, Heavner, Benjamin, Barwick, Lucas, Becker, Lewis C, Bis, Joshua C, Blangero, John, Bleecker, Eugene R, Burchard, Esteban G, Celedón, Juan C, Chang, Yen Pei C, Custer, Brian, Darbar, Dawood, de las Fuentes, Lisa, DeMeo, Dawn L, Freedman, Barry I, Garrett, Melanie E, Gladwin, Mark T, Heckbert, Susan R, Hidalgo, Bertha A, Irvin, Marguerite R, Islam, Talat, Johnson, W Craig, Kaab, Stefan, Launer, Lenore, Lee, Jiwon, Liu, Simin, Moscati, Arden, North, Kari E, Peyser, Patricia A, Rafaels, Nicholas, Seidman, Christine, Weeks, Daniel E, Wen, Fayun, Wheeler, Marsha M, Williams, L Keoki, Yang, Ivana V, Zhao, Wei, Aslibekyan, Stella, Auer, Paul L, Bowden, Donald W, Cade, Brian E, Chen, Zhanghua, Cho, Michael H, Cupples, L Adrienne, Curran, Joanne E, Daya, Michelle, Deka, Ranjan, Eng, Celeste, Fingerlin, Tasha E, Guo, Xiuqing, Hou, Lifang, Hwang, Shih-Jen, Johnsen, Jill M, Kenny, Eimear E, Levin, Albert M, Liu, Chunyu, Minster, Ryan L, Naseri, Take, Nouraie, Mehdi, Reupena, Muagututi A Sefuiva, Sabino, Ester C, Smith, Jennifer A, Smith, Nicholas L, Lasky-Su, Jessica, Taylor, James G, Telen, Marilyn J, Tiwari, Hemant K, Tracy, Russell P, White, Marquitta J, Zhang, Yingze, Wiggins, Kerri L, Weiss, Scott T, Vasan, Ramachandran S, Taylor, Kent D, Sinner, Moritz F, Silverman, Edwin K, Shoemaker, M Benjamin, Sheu, Wayne H-H, Sciurba, Frank, Schwartz, David A, Rotter, Jerome I, Roden, Daniel, Redline, Susan, and Raby, Benjamin A

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, NHLBI CARE Network, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology and Hemostasis Working Group, TOPMed Structural Variation Working Group
Abstract

Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally-diverse individuals (European, African, Asian and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n=109,122 individuals. We identified 59 sentinel variants (p-value

Published
2022

15. Clonal haematopoiesis and risk of chronic liver disease

Author

Wong, Waihay J., Emdin, Connor, Bick, Alexander G., Zekavat, Seyedeh M., Niroula, Abhishek, Pirruccello, James P., Dichtel, Laura, Griffin, Gabriel, Uddin, Md Mesbah, Gibson, Christopher J., Kovalcik, Veronica, Lin, Amy E., McConkey, Marie E., Vromman, Amelie, Sellar, Rob S., Kim, Peter G., Agrawal, Mridul, Weinstock, Joshua, Long, Michelle T., Yu, Bing, Banerjee, Rajarshi, Nicholls, Rowan C., Dennis, Andrea, Kelly, Matt, Loh, Po-Ru, McCarroll, Steve, Boerwinkle, Eric, Vasan, Ramachandran S., Jaiswal, Siddhartha, Johnson, Andrew D., Chung, Raymond T., Corey, Kathleen, Levy, Daniel, Ballantyne, Christie, Ebert, Benjamin L., and Natarajan, Pradeep

Published
2023
Full Text
View/download PDF

16. Clonal hematopoiesis associated with epigenetic aging and clinical outcomes

Author

Nachun, Daniel, Lu, Ake T, Bick, Alexander G, Natarajan, Pradeep, Weinstock, Joshua, Szeto, Mindy D, Kathiresan, Sekar, Abecasis, Goncalo, Taylor, Kent D, Guo, Xiuqing, Tracy, Russ, Durda, Peter, Liu, Yongmei, Johnson, Craig, Rich, Stephen S, Van Den Berg, David, Laurie, Cecilia, Blackwell, Tom, Papanicolaou, George J, Correa, Adolfo, Raffield, Laura M, Johnson, Andrew D, Murabito, Joanne, Manson, JoAnn E, Desai, Pinkal, Kooperberg, Charles, Assimes, Themistocles L, Levy, Daniel, Rotter, Jerome I, Reiner, Alex P, Whitsel, Eric A, Wilson, James G, Horvath, Steve, Jaiswal, Siddhartha, and Consortium, the NHLBI Trans‐Omics for Precision Medicine

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Aging, Heart Disease, Cardiovascular, Patient Safety, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Clonal Hematopoiesis, Epigenomics, Humans, Risk Factors, Treatment Outcome, clonal hematopoiesis, epigenomics, heart disease, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

Clonal hematopoiesis of indeterminate potential (CHIP) is a common precursor state for blood cancers that most frequently occurs due to mutations in the DNA-methylation modifying enzymes DNMT3A or TET2. We used DNA-methylation array and whole-genome sequencing data from four cohorts together comprising 5522 persons to study the association between CHIP, epigenetic clocks, and health outcomes. CHIP was strongly associated with epigenetic age acceleration, defined as the residual after regressing epigenetic clock age on chronological age, in several clocks, ranging from 1.31 years (GrimAge, p 0 in both Hannum and GrimAge (referred to as AgeAccelHG+). This group was at high risk of all-cause mortality (hazard ratio 2.90, p

Published
2021

17. Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma

Author

Abe, Namiko, Abecasis, Gonçalo, Aguet, Francois, Albert, Christine, Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Deborah, Ardlie, Kristin, Arking, Dan, Arnett, Donna K., Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Ayas, Najib, Balasubramanian, Adithya, Barnard, John, Barnes, Kathleen, Barr, R. Graham, Barron-Casella, Emily, Barwick, Lucas, Beaty, Terri, Beck, Gerald, Becker, Diane, Becker, Lewis, Beer, Rebecca, Beitelshees, Amber, Benjamin, Emelia, Benos, Takis, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Blue, Nathan, Boerwinkle, Eric, Bowden, Donald W., Bowler, Russell, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Brown, Deborah, Bunting, Karen, Burchard, Esteban, Bustamante, Carlos, Buth, Erin, Cade, Brian, Cardwell, Jonathan, Carey, Vincent, Carrier, Julie, Carson, April P., Carty, Cara, Casaburi, Richard, Casas Romero, Juan P., Casella, James, Castaldi, Peter, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Chung, Ren-Hua, Clish, Clary, Comhair, Suzy, Conomos, Matthew, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L. Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, de las Fuentes, Lisa, de Vries, Paul, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Dugan-Perez, Shannon, Duggirala, Ravi, Durda, Jon Peter, Dutcher, Susan K., Eaton, Charles, Ekunwe, Lynette, El Boueiz, Adel, Ellinor, Patrick, Emery, Leslie, Erzurum, Serpil, Farber, Charles, Farek, Jesse, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Gelb, Bruce, Geraci, Mark, Germer, Soren, Gerszten, Robert, Ghosh, Auyon, Gibbs, Richard, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Graw, Sharon, Gray, Kathryn J., Grine, Daniel, Gross, Colin, Gu, C. Charles, Guan, Yue, Guo, Xiuqing, Gupta, Namrata, Haessler, Jeff, Hall, Michael, Han, Yi, Hanly, Patrick, Harris, Daniel, Hawley, Nicola L., He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hobbs, Brian, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Irvin, Marguerite Ryan, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Jiwon, Lee, Sandra, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Daniel, Lewis, Joshua, Li, Xiaohui, Li, Yun, Lin, Henry, Lin, Honghuang, Lin, Xihong, Liu, Simin, Liu, Yongmei, Liu, Yu, Loos, Ruth J.F., Lubitz, Steven, Lunetta, Kathryn, Luo, James, Magalang, Ulysses, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, Mathias, Rasika, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, McGoldrick, Daniel, McHugh, Caitlin, McNeil, Becky, Mei, Hao, Meigs, James, Menon, Vipin, Mestroni, Luisa, Metcalf, Ginger, Meyers, Deborah A., Mignot, Emmanuel, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L., Mitchell, Braxton D., Moll, Matt, Momin, Zeineen, Montasser, May E., Montgomery, Courtney, Muzny, Donna, Mychaleckyj, Josyf C., Nadkarni, Girish, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nekhai, Sergei, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nickerson, Deborah, Nkechinyere, Osuji, North, Kari, O'Connell, Jeff, O'Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pack, Allan, Paik, David T., Palmer, Nicholette, Pankow, James, Papanicolaou, George, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Lawrence S., Pleiness, Jacob, Pollin, Toni, Post, Wendy, Powers Becker, Julia, Preethi Boorgula, Meher, Preuss, Michael, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Rajendran, Mahitha, Ramachandran, Vasan S., Rao, D.C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Reeves, Catherine, Regan, Elizabeth, Reiner, Alex, Reupena, Muagututi‘a Sefuiva, Rice, Ken, Rich, Stephen, Robillard, Rebecca, Robine, Nicolas, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sabino, Ester Cerdeira, Saleheen, Danish, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay G., Santibanez, Jireh, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Seidman, Jonathan, Sériès, Frédéric, Sheehan, Vivien, Sherman, Stephanie L., Shetty, Amol, Shetty, Aniket, Sheu, Wayne Hui-Heng, Shoemaker, M. Benjamin, Silver, Brian, Silverman, Edwin, Skomro, Robert, Smith, Albert Vernon, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Snyder, Michael, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent, Taylor, Matthew, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tishkoff, Sarah, Tiwari, Hemant, Tong, Catherine, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, Van Den Berg, David, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Wang, Jiongming, Watson, Karol, Watt, Jennifer, Weeks, Daniel E., Weinstock, Joshua, Weir, Bruce, Weiss, Scott T., Weng, Lu-Chen, Wessel, Jennifer, Willer, Cristen, Williams, Kayleen, Williams, L. Keoki, Williams, Scott, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Baojun, Wu, Joseph, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yu, Ketian, Zekavat, Seyedeh Maryam, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Ziv, Elad, Zody, Michael, Zoellner, Sebastian, Recto, Kathryn, Kachroo, Priyadarshini, Huan, Tianxiao, Lee, Gha Young, Bui, Helena, Lee, Dong Heon, Gereige, Jessica, Yao, Chen, Hwang, Shih-Jen, Joehanes, Roby, O’Connor, George T., and DeMeo, Dawn L.

Published
2023
Full Text
View/download PDF

18. Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Author

Bick, Alexander G, Weinstock, Joshua S, Nandakumar, Satish K, Fulco, Charles P, Bao, Erik L, Zekavat, Seyedeh M, Szeto, Mindy D, Liao, Xiaotian, Leventhal, Matthew J, Nasser, Joseph, Chang, Kyle, Laurie, Cecelia, Burugula, Bala Bharathi, Gibson, Christopher J, Niroula, Abhishek, Lin, Amy E, Taub, Margaret A, Aguet, Francois, Ardlie, Kristin, Mitchell, Braxton D, Barnes, Kathleen C, Moscati, Arden, Fornage, Myriam, Redline, Susan, Psaty, Bruce M, Silverman, Edwin K, Weiss, Scott T, Palmer, Nicholette D, Vasan, Ramachandran S, Burchard, Esteban G, Kardia, Sharon LR, He, Jiang, Kaplan, Robert C, Smith, Nicholas L, Arnett, Donna K, Schwartz, David A, Correa, Adolfo, de Andrade, Mariza, Guo, Xiuqing, Konkle, Barbara A, Custer, Brian, Peralta, Juan M, Gui, Hongsheng, Meyers, Deborah A, McGarvey, Stephen T, Chen, Ida Yii-Der, Shoemaker, M Benjamin, Peyser, Patricia A, Broome, Jai G, Gogarten, Stephanie M, Wang, Fei Fei, Wong, Quenna, Montasser, May E, Daya, Michelle, Kenny, Eimear E, North, Kari E, Launer, Lenore J, Cade, Brian E, Bis, Joshua C, Cho, Michael H, Lasky-Su, Jessica, Bowden, Donald W, Cupples, L Adrienne, Mak, Angel CY, Becker, Lewis C, Smith, Jennifer A, Kelly, Tanika N, Aslibekyan, Stella, Heckbert, Susan R, Tiwari, Hemant K, Yang, Ivana V, Heit, John A, Lubitz, Steven A, Johnsen, Jill M, Curran, Joanne E, Wenzel, Sally E, Weeks, Daniel E, Rao, Dabeeru C, Darbar, Dawood, Moon, Jee-Young, Tracy, Russell P, Buth, Erin J, Rafaels, Nicholas, Loos, Ruth JF, Durda, Peter, Liu, Yongmei, Hou, Lifang, Lee, Jiwon, Kachroo, Priyadarshini, Freedman, Barry I, Levy, Daniel, Bielak, Lawrence F, Hixson, James E, Floyd, James S, Whitsel, Eric A, Ellinor, Patrick T, Irvin, Marguerite R, Fingerlin, Tasha E, Raffield, Laura M, and Armasu, Sebastian M

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Biotechnology, Regenerative Medicine, Stem Cell Research, Human Genome, Underpinning research, Aetiology, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Cardiovascular, Generic health relevance, Inflammatory and immune system, Good Health and Well Being, Adult, Africa, Aged, Aged, 80 and over, Black People, Cell Self Renewal, Clonal Hematopoiesis, DNA-Binding Proteins, Dioxygenases, Female, Genetic Predisposition to Disease, Genome, Human, Germ-Line Mutation, Hematopoietic Stem Cells, Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, National Heart, Lung, and Blood Institute (U.S.), Phenotype, Precision Medicine, Proto-Oncogene Proteins, Tripartite Motif Proteins, United States, Whole Genome Sequencing, alpha Karyopherins, NHLBI Trans-Omics for Precision Medicine Consortium, General Science & Technology
Abstract

Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown1. The age-related acquisition of somatic mutations that lead to clonal expansion in regenerating haematopoietic stem cell populations has recently been associated with both haematological cancer2-4 and coronary heart disease5-this phenomenon is termed clonal haematopoiesis of indeterminate potential (CHIP)6. Simultaneous analyses of germline and somatic whole-genome sequences provide the opportunity to identify root causes of CHIP. Here we analyse high-coverage whole-genome sequences from 97,691 participants of diverse ancestries in the National Heart, Lung, and Blood Institute Trans-omics for Precision Medicine (TOPMed) programme, and identify 4,229 individuals with CHIP. We identify associations with blood cell, lipid and inflammatory traits that are specific to different CHIP driver genes. Association of a genome-wide set of germline genetic variants enabled the identification of three genetic loci associated with CHIP status, including one locus at TET2 that was specific to individuals of African ancestry. In silico-informed in vitro evaluation of the TET2 germline locus enabled the identification of a causal variant that disrupts a TET2 distal enhancer, resulting in increased self-renewal of haematopoietic stem cells. Overall, we observe that germline genetic variation shapes haematopoietic stem cell function, leading to CHIP through mechanisms that are specific to clonal haematopoiesis as well as shared mechanisms that lead to somatic mutations across tissues.

Published
2020

20. Author Correction: Clonal haematopoiesis and risk of chronic liver disease

Author

Wong, Waihay J., Emdin, Connor, Bick, Alexander G., Zekavat, Seyedeh M., Niroula, Abhishek, Pirruccello, James P., Dichtel, Laura, Griffin, Gabriel, Uddin, Md Mesbah, Gibson, Christopher J., Kovalcik, Veronica, Lin, Amy E., McConkey, Marie E., Vromman, Amelie, Sellar, Rob S., Kim, Peter G., Agrawal, Mridul, Weinstock, Joshua, Long, Michelle T., Yu, Bing, Banerjee, Rajarshi, Nicholls, Rowan C., Dennis, Andrea, Kelly, Matt, Loh, Po-Ru, McCarroll, Steve, Boerwinkle, Eric, Vasan, Ramachandran S., Jaiswal, Siddhartha, Johnson, Andrew D., Chung, Raymond T., Corey, Kathleen, Levy, Daniel, Ballantyne, Christie, Ebert, Benjamin L., and Natarajan, Pradeep

Published
2023
Full Text
View/download PDF

22. Abstract 15719: Proteomic Analyses Reveal Mechanistic Links Between Clonal Hematopoiesis of Indeterminate Potential and Coronary Artery Disease

Author

Yu, Zhi, Yu, Bing, Vromman, Amelie, Nguyen, Quynh H, Khetarpal, Sumeet, Honigberg, Michael, Lin, Amy E, Katz, Daniel H, Tahir, Usman A, Weinstock, Joshua S, Jaiswal, Siddhartha, Austin, Thomas, Ramachandran, Vasan S, Peloso, Gina, Manson, Joann E, Haring, Bernhard, Kooperberg, Charles, Reiner, Alex P, Bis, Joshua, Psaty, Bruce M, Correa, Adolfo, Lange, Leslie, Post, Wendy S, Rotter, Jerome I, Rich, Stephen S, Wilson, James, Ballantyne, Christie M, Coresh, Josef, Sankaran, Vijay, Libby, Peter, Bick, Alexander G, Ebert, Benjamin L, Gerszten, Robert E, and Natarajan, Pradeep

Published
2022
Full Text
View/download PDF

23. Determinants of mosaic chromosomal alteration fitness

Author

Pershad, Yash, primary, Mack, Taralynn, additional, Poisner, Hannah, additional, Jakubek, Yasminka A, additional, Stilp, Adrienne M, additional, Mitchell, Braxton D, additional, Lewis, Joshua P, additional, Boerwinkle, Eric, additional, Loos, Ruth J, additional, Chami, Nathalie, additional, Wang, Zhe, additional, Barnes, Kathleen, additional, Pankratz, Nathan, additional, Fornage, Myriam, additional, Redline, Susan, additional, Psaty, Bruce M, additional, Bis, Joshua C, additional, Shojaie, Ali, additional, Silverman, Edwin K, additional, Cho, Michael H, additional, Yun, Jeong, additional, DeMeo, Dawn, additional, Levy, Daniel, additional, Johnson, Andrew, additional, Mathias, Rasika, additional, Taub, Margaret, additional, Arnett, Donna, additional, North, Kari, additional, Raffield, Laura M, additional, Carson, April, additional, Doyle, Margaret F, additional, Rich, Stephen S., additional, Rotter, Jerome I., additional, Guo, Xiuqing, additional, Cox, Nancy, additional, Roden, Dan M, additional, Franceschini, Nora, additional, Desai, Pinkal, additional, Reiner, Alex, additional, Auer, Paul L, additional, Scheet, Paul, additional, Jaiswal, Siddhartha, additional, Weinstock, Joshua S, additional, and Bick, Alexander G, additional

Published
2023
Full Text
View/download PDF

25. Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma

Author

Recto, Kathryn, primary, Kachroo, Priyadarshini, additional, Huan, Tianxiao, additional, Van Den Berg, David, additional, Lee, Gha Young, additional, Bui, Helena, additional, Lee, Dong Heon, additional, Gereige, Jessica, additional, Yao, Chen, additional, Hwang, Shih-Jen, additional, Joehanes, Roby, additional, Weiss, Scott T., additional, O’Connor, George T., additional, Levy, Daniel, additional, DeMeo, Dawn L., additional, Abe, Namiko, additional, Abecasis, Gonçalo, additional, Aguet, Francois, additional, Albert, Christine, additional, Almasy, Laura, additional, Alonso, Alvaro, additional, Ament, Seth, additional, Anderson, Peter, additional, Anugu, Pramod, additional, Applebaum-Bowden, Deborah, additional, Ardlie, Kristin, additional, Arking, Dan, additional, Arnett, Donna K., additional, Ashley-Koch, Allison, additional, Aslibekyan, Stella, additional, Assimes, Tim, additional, Auer, Paul, additional, Avramopoulos, Dimitrios, additional, Ayas, Najib, additional, Balasubramanian, Adithya, additional, Barnard, John, additional, Barnes, Kathleen, additional, Barr, R. Graham, additional, Barron-Casella, Emily, additional, Barwick, Lucas, additional, Beaty, Terri, additional, Beck, Gerald, additional, Becker, Diane, additional, Becker, Lewis, additional, Beer, Rebecca, additional, Beitelshees, Amber, additional, Benjamin, Emelia, additional, Benos, Takis, additional, Bezerra, Marcos, additional, Bielak, Larry, additional, Bis, Joshua, additional, Blackwell, Thomas, additional, Blangero, John, additional, Blue, Nathan, additional, Boerwinkle, Eric, additional, Bowden, Donald W., additional, Bowler, Russell, additional, Brody, Jennifer, additional, Broeckel, Ulrich, additional, Broome, Jai, additional, Brown, Deborah, additional, Bunting, Karen, additional, Burchard, Esteban, additional, Bustamante, Carlos, additional, Buth, Erin, additional, Cade, Brian, additional, Cardwell, Jonathan, additional, Carey, Vincent, additional, Carrier, Julie, additional, Carson, April P., additional, Carty, Cara, additional, Casaburi, Richard, additional, Casas Romero, Juan P., additional, Casella, James, additional, Castaldi, Peter, additional, Chaffin, Mark, additional, Chang, Christy, additional, Chang, Yi-Cheng, additional, Chasman, Daniel, additional, Chavan, Sameer, additional, Chen, Bo-Juen, additional, Chen, Wei-Min, additional, Ida Chen, Yii-Der, additional, Cho, Michael, additional, Choi, Seung Hoan, additional, Chuang, Lee-Ming, additional, Chung, Mina, additional, Chung, Ren-Hua, additional, Clish, Clary, additional, Comhair, Suzy, additional, Conomos, Matthew, additional, Cornell, Elaine, additional, Correa, Adolfo, additional, Crandall, Carolyn, additional, Crapo, James, additional, Cupples, L. Adrienne, additional, Curran, Joanne, additional, Curtis, Jeffrey, additional, Custer, Brian, additional, Damcott, Coleen, additional, Darbar, Dawood, additional, David, Sean, additional, Davis, Colleen, additional, Daya, Michelle, additional, de Andrade, Mariza, additional, de las Fuentes, Lisa, additional, de Vries, Paul, additional, DeBaun, Michael, additional, Deka, Ranjan, additional, DeMeo, Dawn, additional, Devine, Scott, additional, Dinh, Huyen, additional, Doddapaneni, Harsha, additional, Duan, Qing, additional, Dugan-Perez, Shannon, additional, Duggirala, Ravi, additional, Durda, Jon Peter, additional, Dutcher, Susan K., additional, Eaton, Charles, additional, Ekunwe, Lynette, additional, El Boueiz, Adel, additional, Ellinor, Patrick, additional, Emery, Leslie, additional, Erzurum, Serpil, additional, Farber, Charles, additional, Farek, Jesse, additional, Fingerlin, Tasha, additional, Flickinger, Matthew, additional, Fornage, Myriam, additional, Franceschini, Nora, additional, Frazar, Chris, additional, Fu, Mao, additional, Fullerton, Stephanie M., additional, Fulton, Lucinda, additional, Gabriel, Stacey, additional, Gan, Weiniu, additional, Gao, Shanshan, additional, Gao, Yan, additional, Gass, Margery, additional, Geiger, Heather, additional, Gelb, Bruce, additional, Geraci, Mark, additional, Germer, Soren, additional, Gerszten, Robert, additional, Ghosh, Auyon, additional, Gibbs, Richard, additional, Gignoux, Chris, additional, Gladwin, Mark, additional, Glahn, David, additional, Gogarten, Stephanie, additional, Gong, Da-Wei, additional, Goring, Harald, additional, Graw, Sharon, additional, Gray, Kathryn J., additional, Grine, Daniel, additional, Gross, Colin, additional, Gu, C. Charles, additional, Guan, Yue, additional, Guo, Xiuqing, additional, Gupta, Namrata, additional, Haessler, Jeff, additional, Hall, Michael, additional, Han, Yi, additional, Hanly, Patrick, additional, Harris, Daniel, additional, Hawley, Nicola L., additional, He, Jiang, additional, Heavner, Ben, additional, Heckbert, Susan, additional, Hernandez, Ryan, additional, Herrington, David, additional, Hersh, Craig, additional, Hidalgo, Bertha, additional, Hixson, James, additional, Hobbs, Brian, additional, Hokanson, John, additional, Hong, Elliott, additional, Hoth, Karin, additional, Hsiung, Chao (Agnes), additional, Hu, Jianhong, additional, Hung, Yi-Jen, additional, Huston, Haley, additional, Hwu, Chii Min, additional, Irvin, Marguerite Ryan, additional, Jackson, Rebecca, additional, Jain, Deepti, additional, Jaquish, Cashell, additional, Johnsen, Jill, additional, Johnson, Andrew, additional, Johnson, Craig, additional, Johnston, Rich, additional, Jones, Kimberly, additional, Kang, Hyun Min, additional, Kaplan, Robert, additional, Kardia, Sharon, additional, Kelly, Shannon, additional, Kenny, Eimear, additional, Kessler, Michael, additional, Khan, Alyna, additional, Khan, Ziad, additional, Kim, Wonji, additional, Kimoff, John, additional, Kinney, Greg, additional, Konkle, Barbara, additional, Kooperberg, Charles, additional, Kramer, Holly, additional, Lange, Christoph, additional, Lange, Ethan, additional, Lange, Leslie, additional, Laurie, Cathy, additional, Laurie, Cecelia, additional, LeBoff, Meryl, additional, Lee, Jiwon, additional, Lee, Sandra, additional, Lee, Wen-Jane, additional, LeFaive, Jonathon, additional, Levine, David, additional, Lewis, Joshua, additional, Li, Xiaohui, additional, Li, Yun, additional, Lin, Henry, additional, Lin, Honghuang, additional, Lin, Xihong, additional, Liu, Simin, additional, Liu, Yongmei, additional, Liu, Yu, additional, Loos, Ruth J.F., additional, Lubitz, Steven, additional, Lunetta, Kathryn, additional, Luo, James, additional, Magalang, Ulysses, additional, Mahaney, Michael, additional, Make, Barry, additional, Manichaikul, Ani, additional, Manning, Alisa, additional, Manson, JoAnn, additional, Martin, Lisa, additional, Marton, Melissa, additional, Mathai, Susan, additional, Mathias, Rasika, additional, May, Susanne, additional, McArdle, Patrick, additional, McDonald, Merry-Lynn, additional, McFarland, Sean, additional, McGarvey, Stephen, additional, McGoldrick, Daniel, additional, McHugh, Caitlin, additional, McNeil, Becky, additional, Mei, Hao, additional, Meigs, James, additional, Menon, Vipin, additional, Mestroni, Luisa, additional, Metcalf, Ginger, additional, Meyers, Deborah A., additional, Mignot, Emmanuel, additional, Mikulla, Julie, additional, Min, Nancy, additional, Minear, Mollie, additional, Minster, Ryan L., additional, Mitchell, Braxton D., additional, Moll, Matt, additional, Momin, Zeineen, additional, Montasser, May E., additional, Montgomery, Courtney, additional, Muzny, Donna, additional, Mychaleckyj, Josyf C., additional, Nadkarni, Girish, additional, Naik, Rakhi, additional, Naseri, Take, additional, Natarajan, Pradeep, additional, Nekhai, Sergei, additional, Nelson, Sarah C., additional, Neltner, Bonnie, additional, Nessner, Caitlin, additional, Nickerson, Deborah, additional, Nkechinyere, Osuji, additional, North, Kari, additional, O'Connell, Jeff, additional, O'Connor, Tim, additional, Ochs-Balcom, Heather, additional, Okwuonu, Geoffrey, additional, Pack, Allan, additional, Paik, David T., additional, Palmer, Nicholette, additional, Pankow, James, additional, Papanicolaou, George, additional, Parker, Cora, additional, Peloso, Gina, additional, Peralta, Juan Manuel, additional, Perez, Marco, additional, Perry, James, additional, Peters, Ulrike, additional, Peyser, Patricia, additional, Phillips, Lawrence S., additional, Pleiness, Jacob, additional, Pollin, Toni, additional, Post, Wendy, additional, Powers Becker, Julia, additional, Preethi Boorgula, Meher, additional, Preuss, Michael, additional, Psaty, Bruce, additional, Qasba, Pankaj, additional, Qiao, Dandi, additional, Qin, Zhaohui, additional, Rafaels, Nicholas, additional, Raffield, Laura, additional, Rajendran, Mahitha, additional, Ramachandran, Vasan S., additional, Rao, D.C., additional, Rasmussen-Torvik, Laura, additional, Ratan, Aakrosh, additional, Redline, Susan, additional, Reed, Robert, additional, Reeves, Catherine, additional, Regan, Elizabeth, additional, Reiner, Alex, additional, Reupena, Muagututi‘a Sefuiva, additional, Rice, Ken, additional, Rich, Stephen, additional, Robillard, Rebecca, additional, Robine, Nicolas, additional, Roden, Dan, additional, Roselli, Carolina, additional, Rotter, Jerome, additional, Ruczinski, Ingo, additional, Runnels, Alexi, additional, Russell, Pamela, additional, Ruuska, Sarah, additional, Ryan, Kathleen, additional, Sabino, Ester Cerdeira, additional, Saleheen, Danish, additional, Salimi, Shabnam, additional, Salvi, Sejal, additional, Salzberg, Steven, additional, Sandow, Kevin, additional, Sankaran, Vijay G., additional, Santibanez, Jireh, additional, Schwander, Karen, additional, Schwartz, David, additional, Sciurba, Frank, additional, Seidman, Christine, additional, Seidman, Jonathan, additional, Sériès, Frédéric, additional, Sheehan, Vivien, additional, Sherman, Stephanie L., additional, Shetty, Amol, additional, Shetty, Aniket, additional, Sheu, Wayne Hui-Heng, additional, Shoemaker, M. Benjamin, additional, Silver, Brian, additional, Silverman, Edwin, additional, Skomro, Robert, additional, Smith, Albert Vernon, additional, Smith, Jennifer, additional, Smith, Josh, additional, Smith, Nicholas, additional, Smith, Tanja, additional, Smoller, Sylvia, additional, Snively, Beverly, additional, Snyder, Michael, additional, Sofer, Tamar, additional, Sotoodehnia, Nona, additional, Stilp, Adrienne M., additional, Storm, Garrett, additional, Streeten, Elizabeth, additional, Su, Jessica Lasky, additional, Sung, Yun Ju, additional, Sylvia, Jody, additional, Szpiro, Adam, additional, Taliun, Daniel, additional, Tang, Hua, additional, Taub, Margaret, additional, Taylor, Kent, additional, Taylor, Matthew, additional, Taylor, Simeon, additional, Telen, Marilyn, additional, Thornton, Timothy A., additional, Threlkeld, Machiko, additional, Tinker, Lesley, additional, Tirschwell, David, additional, Tishkoff, Sarah, additional, Tiwari, Hemant, additional, Tong, Catherine, additional, Tracy, Russell, additional, Tsai, Michael, additional, Vaidya, Dhananjay, additional, VandeHaar, Peter, additional, Vrieze, Scott, additional, Walker, Tarik, additional, Wallace, Robert, additional, Walts, Avram, additional, Wang, Fei Fei, additional, Wang, Heming, additional, Wang, Jiongming, additional, Watson, Karol, additional, Watt, Jennifer, additional, Weeks, Daniel E., additional, Weinstock, Joshua, additional, Weir, Bruce, additional, Weng, Lu-Chen, additional, Wessel, Jennifer, additional, Willer, Cristen, additional, Williams, Kayleen, additional, Williams, L. Keoki, additional, Williams, Scott, additional, Wilson, Carla, additional, Wilson, James, additional, Winterkorn, Lara, additional, Wong, Quenna, additional, Wu, Baojun, additional, Wu, Joseph, additional, Xu, Huichun, additional, Yanek, Lisa, additional, Yang, Ivana, additional, Yu, Ketian, additional, Zekavat, Seyedeh Maryam, additional, Zhang, Yingze, additional, Zhao, Snow Xueyan, additional, Zhao, Wei, additional, Zhu, Xiaofeng, additional, Ziv, Elad, additional, Zody, Michael, additional, and Zoellner, Sebastian, additional

Published
2023
Full Text
View/download PDF

27. Supplementary Figures S1-S11 from ZBTB33 Is Mutated in Clonal Hematopoiesis and Myelodysplastic Syndromes and Impacts RNA Splicing

Author

Beauchamp, Ellen M., primary, Leventhal, Matthew, primary, Bernard, Elsa, primary, Hoppe, Emma R., primary, Todisco, Gabriele, primary, Creignou, Maria, primary, Gallì, Anna, primary, Castellano, Cecilia A., primary, McConkey, Marie, primary, Tarun, Akansha, primary, Wong, Waihay, primary, Schenone, Monica, primary, Stanclift, Caroline, primary, Tanenbaum, Benjamin, primary, Malolepsza, Edyta, primary, Nilsson, Björn, primary, Bick, Alexander G., primary, Weinstock, Joshua S., primary, Miller, Mendy, primary, Niroula, Abhishek, primary, Dunford, Andrew, primary, Taylor-Weiner, Amaro, primary, Wood, Timothy, primary, Barbera, Alex, primary, Anand, Shankara, primary, Psaty, Bruce M., primary, Desai, Pinkal, primary, Cho, Michael H., primary, Johnson, Andrew D., primary, Loos, Ruth, primary, MacArthur, Daniel G., primary, Lek, Monkol, primary, Neuberg, Donna S., primary, Lage, Kasper, primary, Carr, Steven A., primary, Hellstrom-Lindberg, Eva, primary, Malcovati, Luca, primary, Papaemmanuil, Elli, primary, Stewart, Chip, primary, Getz, Gad, primary, Bradley, Robert K., primary, Jaiswal, Siddhartha, primary, and Ebert, Benjamin L., primary

Published
2023
Full Text
View/download PDF

28. Data from ZBTB33 Is Mutated in Clonal Hematopoiesis and Myelodysplastic Syndromes and Impacts RNA Splicing

Author

Beauchamp, Ellen M., primary, Leventhal, Matthew, primary, Bernard, Elsa, primary, Hoppe, Emma R., primary, Todisco, Gabriele, primary, Creignou, Maria, primary, Gallì, Anna, primary, Castellano, Cecilia A., primary, McConkey, Marie, primary, Tarun, Akansha, primary, Wong, Waihay, primary, Schenone, Monica, primary, Stanclift, Caroline, primary, Tanenbaum, Benjamin, primary, Malolepsza, Edyta, primary, Nilsson, Björn, primary, Bick, Alexander G., primary, Weinstock, Joshua S., primary, Miller, Mendy, primary, Niroula, Abhishek, primary, Dunford, Andrew, primary, Taylor-Weiner, Amaro, primary, Wood, Timothy, primary, Barbera, Alex, primary, Anand, Shankara, primary, Psaty, Bruce M., primary, Desai, Pinkal, primary, Cho, Michael H., primary, Johnson, Andrew D., primary, Loos, Ruth, primary, MacArthur, Daniel G., primary, Lek, Monkol, primary, Neuberg, Donna S., primary, Lage, Kasper, primary, Carr, Steven A., primary, Hellstrom-Lindberg, Eva, primary, Malcovati, Luca, primary, Papaemmanuil, Elli, primary, Stewart, Chip, primary, Getz, Gad, primary, Bradley, Robert K., primary, Jaiswal, Siddhartha, primary, and Ebert, Benjamin L., primary

Published
2023
Full Text
View/download PDF

29. Supplementary Tables S1-S19 from ZBTB33 Is Mutated in Clonal Hematopoiesis and Myelodysplastic Syndromes and Impacts RNA Splicing

Author

Beauchamp, Ellen M., primary, Leventhal, Matthew, primary, Bernard, Elsa, primary, Hoppe, Emma R., primary, Todisco, Gabriele, primary, Creignou, Maria, primary, Gallì, Anna, primary, Castellano, Cecilia A., primary, McConkey, Marie, primary, Tarun, Akansha, primary, Wong, Waihay, primary, Schenone, Monica, primary, Stanclift, Caroline, primary, Tanenbaum, Benjamin, primary, Malolepsza, Edyta, primary, Nilsson, Björn, primary, Bick, Alexander G., primary, Weinstock, Joshua S., primary, Miller, Mendy, primary, Niroula, Abhishek, primary, Dunford, Andrew, primary, Taylor-Weiner, Amaro, primary, Wood, Timothy, primary, Barbera, Alex, primary, Anand, Shankara, primary, Psaty, Bruce M., primary, Desai, Pinkal, primary, Cho, Michael H., primary, Johnson, Andrew D., primary, Loos, Ruth, primary, MacArthur, Daniel G., primary, Lek, Monkol, primary, Neuberg, Donna S., primary, Lage, Kasper, primary, Carr, Steven A., primary, Hellstrom-Lindberg, Eva, primary, Malcovati, Luca, primary, Papaemmanuil, Elli, primary, Stewart, Chip, primary, Getz, Gad, primary, Bradley, Robert K., primary, Jaiswal, Siddhartha, primary, and Ebert, Benjamin L., primary

Published
2023
Full Text
View/download PDF

30. A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic datasets

Author

Vlasschaert, Caitlyn, primary, Mack, Taralynn, additional, Heimlich, J. Brett, additional, Niroula, Abhishek, additional, Uddin, Mesbah, additional, Weinstock, Joshua, additional, Sharber, Brian, additional, Silver, Alexander J., additional, Xu, Yaomin, additional, Savona, Michael, additional, Gibson, Christopher, additional, Lanktree, Matthew B., additional, Rauh, Michael J., additional, Ebert, Benjamin L., additional, Natarajan, Pradeep, additional, Jaiswal, Siddhartha, additional, and Bick, Alexander G., additional

Published
2022
Full Text
View/download PDF

31. De'VIA: Utilizing the Deaf Experience in the Arts Curriculum

Author

Weinstock, Joshua Matthew

Subjects
Art education, Education, Curriculum development, Art, ASL, Curriculum, Deaf, De'VIA, Sign Language
Abstract

The Science, Technology, Engineering and Mathematics (STEM) movement has begun to taken off, but schools across our nation have voiced a call of attention to the absence of The Arts in our curricular. The debate is to add “Arts” to the STEM programs to be changed into “STEAM” because our students can benefit from critical thinking, designing skills and creative planning using their artistic right brain as part of the Arts Curriculum.As a bilingual educator of the Deaf and Hard of Hearing students, I made it my mission to incorporate Deaf Culture – which presently does not exist in the Visual and Performing Arts Content Standards for California Public Schools - into the Arts Curriculum in order to make the Arts Content relevant to a group of Grade 2 Deaf and Hard of Hearing students themselves. That is why the Deaf Arts Curriculum was created. The ASL and English Bilingual approach to Deaf Education was efficient in making the Arts Curriculum accessible for the students with Deaf View Image Art (De’VIA), an art genre that embodies the experiences of the Deaf Artist.Data was collected using teacher observation, field notes, rubrics and student projects to evaluate the Deaf Arts Curriculum’s success. Based on the evidence, students developed art critique and production skills in the context of an ASL/English classroom. Students learned about the elements of art and gained a deeper appreciation of their Deaf and Hard of Hearing cultural identity while making connections to the core subjects.

Published
2016

32. Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease

Author

Katz, Daniel H., primary, Tahir, Usman A., additional, Bick, Alexander G., additional, Pampana, Akhil, additional, Ngo, Debby, additional, Benson, Mark D., additional, Yu, Zhi, additional, Robbins, Jeremy M., additional, Chen, Zsu-Zsu, additional, Cruz, Daniel E., additional, Deng, Shuliang, additional, Farrell, Laurie, additional, Sinha, Sumita, additional, Schmaier, Alec A., additional, Shen, Dongxiao, additional, Gao, Yan, additional, Hall, Michael E., additional, Correa, Adolfo, additional, Tracy, Russell P., additional, Durda, Peter, additional, Taylor, Kent D., additional, Liu, Yongmei, additional, Johnson, W. Craig, additional, Guo, Xiuqing, additional, Yao, Jie, additional, Ida Chen, Yii-Der, additional, Manichaikul, Ani W., additional, Jain, Deepti, additional, Bouchard, Claude, additional, Sarzynski, Mark A., additional, Rich, Stephen S., additional, Rotter, Jerome I., additional, Wang, Thomas J., additional, Wilson, James G., additional, Natarajan, Pradeep, additional, Gerszten, Robert E., additional, Abe, Namiko, additional, Abecasis, Gonçalo, additional, Aguet, Francois, additional, Albert, Christine, additional, Almasy, Laura, additional, Alonso, Alvaro, additional, Ament, Seth, additional, Anderson, Peter, additional, Anugu, Pramod, additional, Applebaum-Bowden, Deborah, additional, Ardlie, Kristin, additional, Arking, Dan, additional, Arnett, Donna K., additional, Ashley-Koch, Allison, additional, Aslibekyan, Stella, additional, Assimes, Tim, additional, Auer, Paul, additional, Avramopoulos, Dimitrios, additional, Ayas, Najib, additional, Balasubramanian, Adithya, additional, Barnard, John, additional, Barnes, Kathleen, additional, Barr, R. Graham, additional, Barron-Casella, Emily, additional, Barwick, Lucas, additional, Beaty, Terri, additional, Beck, Gerald, additional, Becker, Diane, additional, Becker, Lewis, additional, Beer, Rebecca, additional, Beitelshees, Amber, additional, Benjamin, Emelia, additional, Benos, Takis, additional, Bezerra, Marcos, additional, Bielak, Larry, additional, Bis, Joshua, additional, Blackwell, Thomas, additional, Blangero, John, additional, Boerwinkle, Eric, additional, Bowden, Donald W., additional, Bowler, Russell, additional, Brody, Jennifer, additional, Broeckel, Ulrich, additional, Broome, Jai, additional, Brown, Deborah, additional, Bunting, Karen, additional, Burchard, Esteban, additional, Bustamante, Carlos, additional, Buth, Erin, additional, Cade, Brian, additional, Cardwell, Jonathan, additional, Carey, Vincent, additional, Carrier, Julie, additional, Carson, April, additional, Carty, Cara, additional, Casaburi, Richard, additional, Casas Romero, Juan P., additional, Casella, James, additional, Castaldi, Peter, additional, Chaffin, Mark, additional, Chang, Christy, additional, Chang, Yi-Cheng, additional, Chasman, Daniel, additional, Chavan, Sameer, additional, Chen, Bo-Juen, additional, Chen, Wei-Min, additional, Chen, Yii-Der Ida, additional, Cho, Michael, additional, Choi, Seung Hoan, additional, Chuang, Lee-Ming, additional, Chung, Mina, additional, Chung, Ren-Hua, additional, Clish, Clary, additional, Comhair, Suzy, additional, Conomos, Matthew, additional, Cornell, Elaine, additional, Crandall, Carolyn, additional, Crapo, James, additional, Cupples, L. Adrienne, additional, Curran, Joanne, additional, Curtis, Jeffrey, additional, Custer, Brian, additional, Damcott, Coleen, additional, Darbar, Dawood, additional, David, Sean, additional, Davis, Colleen, additional, Daya, Michelle, additional, de Andrade, Mariza, additional, de las Fuentes, Lisa, additional, de Vries, Paul, additional, DeBaun, Michael, additional, Deka, Ranjan, additional, DeMeo, Dawn, additional, Devine, Scott, additional, Dinh, Huyen, additional, Doddapaneni, Harsha, additional, Duan, Qing, additional, Dugan-Perez, Shannon, additional, Duggirala, Ravi, additional, Durda, Jon Peter, additional, Dutcher, Susan K., additional, Eaton, Charles, additional, Ekunwe, Lynette, additional, El Boueiz, Adel, additional, Ellinor, Patrick, additional, Emery, Leslie, additional, Erzurum, Serpil, additional, Farber, Charles, additional, Farek, Jesse, additional, Fingerlin, Tasha, additional, Flickinger, Matthew, additional, Fornage, Myriam, additional, Franceschini, Nora, additional, Frazar, Chris, additional, Fu, Mao, additional, Fullerton, Stephanie M., additional, Fulton, Lucinda, additional, Gabriel, Stacey, additional, Gan, Weiniu, additional, Gao, Shanshan, additional, Gass, Margery, additional, Geiger, Heather, additional, Gelb, Bruce, additional, Geraci, Mark, additional, Germer, Soren, additional, Gerszten, Robert, additional, Ghosh, Auyon, additional, Gibbs, Richard, additional, Gignoux, Chris, additional, Gladwin, Mark, additional, Glahn, David, additional, Gogarten, Stephanie, additional, Gong, Da-Wei, additional, Goring, Harald, additional, Graw, Sharon, additional, Gray, Kathryn J., additional, Grine, Daniel, additional, Gross, Colin, additional, Gu, C. Charles, additional, Guan, Yue, additional, Gupta, Namrata, additional, Haas, David M., additional, Haessler, Jeff, additional, Hall, Michael, additional, Han, Yi, additional, Hanly, Patrick, additional, Harris, Daniel, additional, Hawley, Nicola L., additional, He, Jiang, additional, Heavner, Ben, additional, Heckbert, Susan, additional, Hernandez, Ryan, additional, Herrington, David, additional, Hersh, Craig, additional, Hidalgo, Bertha, additional, Hixson, James, additional, Hobbs, Brian, additional, Hokanson, John, additional, Hong, Elliott, additional, Hoth, Karin, additional, Hsiung, Chao (Agnes), additional, Hu, Jianhong, additional, Hung, Yi-Jen, additional, Huston, Haley, additional, Hwu, Chii Min, additional, Irvin, Marguerite Ryan, additional, Jackson, Rebecca, additional, Jaquish, Cashell, additional, Johnsen, Jill, additional, Johnson, Andrew, additional, Johnson, Craig, additional, Johnston, Rich, additional, Jones, Kimberly, additional, Kang, Hyun Min, additional, Kaplan, Robert, additional, Kardia, Sharon, additional, Kelly, Shannon, additional, Kenny, Eimear, additional, Kessler, Michael, additional, Khan, Alyna, additional, Khan, Ziad, additional, Kim, Wonji, additional, Kimoff, John, additional, Kinney, Greg, additional, Konkle, Barbara, additional, Kooperberg, Charles, additional, Kramer, Holly, additional, Lange, Christoph, additional, Lange, Ethan, additional, Lange, Leslie, additional, Laurie, Cathy, additional, Laurie, Cecelia, additional, LeBoff, Meryl, additional, Lee, Jiwon, additional, Lee, Sandra, additional, Lee, Wen-Jane, additional, LeFaive, Jonathon, additional, Levine, David, additional, Levy, Dan, additional, Lewis, Joshua, additional, Li, Xiaohui, additional, Li, Yun, additional, Lin, Henry, additional, Lin, Honghuang, additional, Lin, Xihong, additional, Liu, Simin, additional, Liu, Yu, additional, Loos, Ruth J.F., additional, Lubitz, Steven, additional, Lunetta, Kathryn, additional, Luo, James, additional, Magalang, Ulysses, additional, Mahaney, Michael, additional, Make, Barry, additional, Manichaikul, Ani, additional, Manning, Alisa, additional, Manson, JoAnn, additional, Martin, Lisa, additional, Marton, Melissa, additional, Mathai, Susan, additional, Mathias, Rasika, additional, May, Susanne, additional, McArdle, Patrick, additional, McDonald, Merry-Lynn, additional, McFarland, Sean, additional, McGarvey, Stephen, additional, McGoldrick, Daniel, additional, McHugh, Caitlin, additional, McNeil, Becky, additional, Mei, Hao, additional, Meigs, James, additional, Menon, Vipin, additional, Mestroni, Luisa, additional, Metcalf, Ginger, additional, Meyers, Deborah A., additional, Mignot, Emmanuel, additional, Mikulla, Julie, additional, Min, Nancy, additional, Minear, Mollie, additional, Minster, Ryan L., additional, Mitchell, Braxton D., additional, Moll, Matt, additional, Momin, Zeineen, additional, Montasser, May E., additional, Montgomery, Courtney, additional, Muzny, Donna, additional, Mychaleckyj, Josyf C., additional, Nadkarni, Girish, additional, Naik, Rakhi, additional, Naseri, Take, additional, Nekhai, Sergei, additional, Nelson, Sarah C., additional, Neltner, Bonnie, additional, Nessner, Caitlin, additional, Nickerson, Deborah, additional, Nkechinyere, Osuji, additional, North, Kari, additional, O’Connell, Jeff, additional, O’Connor, Tim, additional, Ochs-Balcom, Heather, additional, Okwuonu, Geoffrey, additional, Pack, Allan, additional, Paik, David T., additional, Palmer, Nicholette, additional, Pankow, James, additional, Papanicolaou, George, additional, Parker, Cora, additional, Peloso, Gina, additional, Peralta, Juan Manuel, additional, Perez, Marco, additional, Perry, James, additional, Peters, Ulrike, additional, Peyser, Patricia, additional, Phillips, Lawrence S., additional, Pleiness, Jacob, additional, Pollin, Toni, additional, Post, Wendy, additional, Powers Becker, Julia, additional, Preethi Boorgula, Meher, additional, Preuss, Michael, additional, Psaty, Bruce, additional, Qasba, Pankaj, additional, Qiao, Dandi, additional, Qin, Zhaohui, additional, Rafaels, Nicholas, additional, Raffield, Laura, additional, Rajendran, Mahitha, additional, Ramachandran, Vasan S., additional, Rao, D.C., additional, Rasmussen-Torvik, Laura, additional, Ratan, Aakrosh, additional, Redline, Susan, additional, Reed, Robert, additional, Reeves, Catherine, additional, Regan, Elizabeth, additional, Reiner, Alex, additional, Reupena, Muagututi’a Sefuiva, additional, Rice, Ken, additional, Rich, Stephen, additional, Robillard, Rebecca, additional, Robine, Nicolas, additional, Roden, Dan, additional, Roselli, Carolina, additional, Rotter, Jerome, additional, Ruczinski, Ingo, additional, Runnels, Alexi, additional, Russell, Pamela, additional, Ruuska, Sarah, additional, Ryan, Kathleen, additional, Sabino, Ester Cerdeira, additional, Saleheen, Danish, additional, Salimi, Shabnam, additional, Salvi, Sejal, additional, Salzberg, Steven, additional, Sandow, Kevin, additional, Sankaran, Vijay G., additional, Santibanez, Jireh, additional, Schwander, Karen, additional, Schwartz, David, additional, Sciurba, Frank, additional, Seidman, Christine, additional, Seidman, Jonathan, additional, Sériès, Frédéric, additional, Sheehan, Vivien, additional, Sherman, Stephanie L., additional, Shetty, Amol, additional, Shetty, Aniket, additional, Sheu, Wayne Hui-Heng, additional, Shoemaker, M. Benjamin, additional, Silver, Brian, additional, Silverman, Edwin, additional, Skomro, Robert, additional, Smith, Albert Vernon, additional, Smith, Jennifer, additional, Smith, Josh, additional, Smith, Nicholas, additional, Smith, Tanja, additional, Smoller, Sylvia, additional, Snively, Beverly, additional, Snyder, Michael, additional, Sofer, Tamar, additional, Sotoodehnia, Nona, additional, Stilp, Adrienne M., additional, Storm, Garrett, additional, Streeten, Elizabeth, additional, Su, Jessica Lasky, additional, Sung, Yun Ju, additional, Sylvia, Jody, additional, Szpiro, Adam, additional, Taliun, Daniel, additional, Tang, Hua, additional, Taub, Margaret, additional, Taylor, Matthew, additional, Taylor, Simeon, additional, Telen, Marilyn, additional, Thornton, Timothy A., additional, Threlkeld, Machiko, additional, Tinker, Lesley, additional, Tirschwell, David, additional, Tishkoff, Sarah, additional, Tiwari, Hemant, additional, Tong, Catherine, additional, Tracy, Russell, additional, Tsai, Michael, additional, Vaidya, Dhananjay, additional, Van Den Berg, David, additional, VandeHaar, Peter, additional, Vrieze, Scott, additional, Walker, Tarik, additional, Wallace, Robert, additional, Walts, Avram, additional, Wang, Fei Fei, additional, Wang, Heming, additional, Wang, Jiongming, additional, Watson, Karol, additional, Watt, Jennifer, additional, Weeks, Daniel E., additional, Weinstock, Joshua, additional, Weir, Bruce, additional, Weiss, Scott T., additional, Weng, Lu-Chen, additional, Wessel, Jennifer, additional, Willer, Cristen, additional, Williams, Kayleen, additional, Williams, L. Keoki, additional, Wilson, Carla, additional, Wilson, James, additional, Winterkorn, Lara, additional, Wong, Quenna, additional, Wu, Joseph, additional, Xu, Huichun, additional, Yanek, Lisa, additional, Yang, Ivana, additional, Yu, Ketian, additional, Zekavat, Seyedeh Maryam, additional, Zhang, Yingze, additional, Zhao, Snow Xueyan, additional, Zhao, Wei, additional, Zhu, Xiaofeng, additional, Zody, Michael, additional, and Zoellner, Sebastian, additional

Published
2022
Full Text
View/download PDF

34. Clonal hematopoiesis is driven by aberrant activation of TCL1A

Author

Weinstock, Joshua S., primary, Gopakumar, Jayakrishnan, additional, Burugula, Bala Bharathi, additional, Uddin, Md Mesbah, additional, Jahn, Nikolaus, additional, Belk, Julia A., additional, Daniel, Bence, additional, Ly, Nghi, additional, Mack, Taralyn M., additional, Laurie, Cecelia A., additional, Broome, Jai G., additional, Taylor, Kent D., additional, Guo, Xiuqing, additional, Sinner, Moritz F., additional, von Falkenhausen, Aenne S., additional, Kääb, Stefan, additional, Shuldiner, Alan R., additional, O’Connell, Jeffrey R., additional, Lewis, Joshua P., additional, Boerwinkle, Eric, additional, Barnes, Kathleen C., additional, Chami, Nathalie, additional, Kenny, Eimear E., additional, Loos, Ruth J., additional, Fornage, Myriam, additional, Hou, Lifang, additional, Lloyd-Jones, Donald M., additional, Redline, Susan, additional, Cade, Brian E., additional, Psaty, Bruce M., additional, Bis, Joshua C., additional, Brody, Jennifer A., additional, Silverman, Edwin K., additional, Yun, Jeong H., additional, Qiao, Dandi, additional, Palmer, Nicholette D., additional, Freedman, Barry I., additional, Bowden, Donald W., additional, Cho, Michael H., additional, DeMeo, Dawn L., additional, Vasan, Ramachandran S., additional, Yanek, Lisa R., additional, Becker, Lewis C., additional, Kardia, Sharon, additional, Peyser, Patricia A., additional, He, Jiang, additional, Rienstra, Michiel, additional, Harst, Pim Van der, additional, Kaplan, Robert, additional, Heckbert, Susan R., additional, Smith, Nicholas L., additional, Wiggins, Kerri L., additional, Arnett, Donna K., additional, Irvin, Marguerite R., additional, Tiwari, Hemant, additional, Cutler, Michael J., additional, Knight, Stacey, additional, Muhlestein, J Brent., additional, Correa, Adolfo, additional, Raffield, Laura M., additional, Gao, Yan, additional, Andrade, Mariza de, additional, Rotter, Jerome I., additional, Rich, Stephen S., additional, Tracy, Russell P., additional, Konkle, Barbara A., additional, Johnsen, Jill M., additional, Wheeler, Marsha M., additional, Smith, J. Gustav, additional, Melander, Olle, additional, Nilsson, Peter M., additional, Custer, Brian S., additional, Duggirala, Ravindranath, additional, Curran, Joanne E., additional, Blangero, John, additional, McGarvey, Stephen, additional, Williams, L. Keoki, additional, Xiao, Shujie, additional, Yang, Mao, additional, Gu, C. Charles., additional, Chen, Yii-Der Ida., additional, Lee, Wen-Jane, additional, Marcus, Gregory M., additional, Kane, John P., additional, Pullinger, Clive R., additional, Shoemaker, M. Benjamin, additional, Darbar, Dawood, additional, Roden, Dan, additional, Albert, Christine, additional, Kooperberg, Charles, additional, Zhou, Ying, additional, Manson, JoAnn E., additional, Desai, Pinkal, additional, Johnson, Andrew, additional, Mathias, Rasika, additional, Blackwell, Thomas W., additional, Abecasis, Goncalo R., additional, Smith, Albert V., additional, Kang, Hyun M., additional, Satpathy, Ansuman T., additional, Natarajan, Pradeep, additional, Kitzman, Jacob, additional, Whitsel, Eric, additional, Reiner, Alexander P., additional, Bick, Alexander G., additional, and Jaiswal, Sidd, additional

Published
2021
Full Text
View/download PDF

36. Clonal Hematopoiesis Is Driven By Aberrant Activation of TCL1A

Author

Gopakumar, Jk, primary, Weinstock, Joshua, additional, Burugula, Bala B, additional, Jahn, Nikolaus, additional, Kooperberg, Charles, additional, Desai, Pinkal, additional, Natarajan, Pradeep, additional, Kitzman, Jacob O, additional, Reiner, Alexander, additional, Bick, Alexander G., additional, and Jaiswal, Siddhartha, additional

Published
2021
Full Text
View/download PDF

37. Clonal Hematopoiesis is Associated with Reduced Risk of Alzheimer's Disease

Author

Bouzid, Hind, primary, Belk, Julia, additional, Jan, Max, additional, Qi, Yanyan, additional, Sarnowski, Chloé, additional, Wirth, Sara, additional, Ma, Lisa, additional, Chrostek, Matthew, additional, Ahmad, Herra, additional, Nachun, Daniel, additional, Yao, Winnie, additional, Beiser, Alexa, additional, Bick, Alexander G., additional, Bis, Joshua, additional, Fornage, Myriam, additional, Longstreth, W. T., additional, Lopez, Oscar, additional, Nataranjan, Pradeep, additional, Psaty, Bruce, additional, Satizabal, Claudia, additional, Weinstock, Joshua, additional, Larson, Eric, additional, Crane, Paul, additional, Keene, C. Dirk, additional, Seshadri, Sudha, additional, Satpathy, Ansuman T., additional, Montine, Thomas, additional, and Jaiswal, Siddhartha, additional

Published
2021
Full Text
View/download PDF

38. Healthy Lifestyle and Clonal Hematopoiesis of Indeterminate Potential. Results from the Women’s Health Initiative

Author

Haring, Bernhard, Reiner, Alexander P., Liu, Jingmin, Tobias, Deirdre K., Whitsel, Eric, Berger, Jeffrey S., Desai, Pinkal, Wassertheil‐Smoller, Sylvia, LaMonte, Michael J., Hayden, Kathleen M., Bick, Alexander G., Natarajan, Pradeep, Weinstock, Joshua S., Nguyen, Patricia K., Stefanick, Marcia, Simon, Michael S., Eaton, Charles B., Kooperberg, Charles, and Manson, JoAnn E.

Subjects
lifestyle, clonal hematopoiesis of indeterminate potential, physical activity, body mass index, smoking, Gene Frequency, Prevalence, Humans, Women, ddc:610, Life Style, Original Research, Aged, Retrospective Studies, Go Red for Women Spotlight, DNA, Middle Aged, United States, Primary Prevention, Postmenopause, Cardiovascular Diseases, Women's Health, Female, Clonal Hematopoiesis, diet, Biomarkers
Abstract

Background Presence of clonal hematopoiesis of indeterminate potential (CHIP) is associated with a higher risk of atherosclerotic cardiovascular disease, cancer, and mortality. The relationship between a healthy lifestyle and CHIP is unknown. Methods and Results This analysis included 8709 postmenopausal women (mean age, 66.5 years) enrolled in the WHI (Women's Health Initiative), free of cancer or cardiovascular disease, with deep‐coverage whole genome sequencing data available. Information on lifestyle factors (body mass index, smoking, physical activity, and diet quality) was obtained, and a healthy lifestyle score was created on the basis of healthy criteria met (0 point [least healthy] to 4 points [most healthy]). CHIP was derived on the basis of a prespecified list of leukemogenic driver mutations. The prevalence of CHIP was 8.6%. A higher healthy lifestyle score was not associated with CHIP (multivariable‐adjusted odds ratio [OR] [95% CI], 0.99 [0.80–1.23] and 1.13 [0.93–1.37]) for the upper (3 or 4 points) and middle category (2 points), respectively, versus referent (0 or 1 point). Across score components, a normal and overweight body mass index compared with obese was significantly associated with a lower odds for CHIP (OR, 0.71 [95% CI, 0.57–0.88] and 0.83 [95% CI, 0.68–1.01], respectively; P‐trend 0.0015). Having never smoked compared with being a current smoker tended to be associated with lower odds for CHIP. Conclusions A healthy lifestyle, based on a composite score, was not related to CHIP among postmenopausal women. However, across individual lifestyle factors, having a normal body mass index was strongly associated with a lower prevalence of CHIP. These findings support the idea that certain healthy lifestyle factors are associated with a lower frequency of CHIP.

Published
2021
Full Text
View/download PDF

39. Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Author

Bick, Alexander G., Weinstock, Joshua S., Nandakumar, Satish K., Fulco, Charles P., Bao, Erik L., Zekavat, Seyedeh M., and Szeto, Mindy D.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

A Correction to this paper has been published: https://doi.org/10.1038/s41586-021-03280-1., Author(s): Alexander G. Bick [sup.1] [sup.2] [sup.3] [sup.176] , Joshua S. Weinstock [sup.4] [sup.176] , Satish K. Nandakumar [sup.2] [sup.5] , Charles P. Fulco [sup.2] [sup.6] , Erik L. Bao [...]

Published
2021
Full Text
View/download PDF

40. Healthy Lifestyle and Clonal Hematopoiesis of Indeterminate Potential: Results From the Women's Health Initiative

Author

Haring, Bernhard, primary, Reiner, Alexander P., additional, Liu, Jingmin, additional, Tobias, Deirdre K., additional, Whitsel, Eric, additional, Berger, Jeffrey S., additional, Desai, Pinkal, additional, Wassertheil‐Smoller, Sylvia, additional, LaMonte, Michael J., additional, Hayden, Kathleen M., additional, Bick, Alexander G., additional, Natarajan, Pradeep, additional, Weinstock, Joshua S., additional, Nguyen, Patricia K., additional, Stefanick, Marcia, additional, Simon, Michael S., additional, Eaton, Charles B., additional, Kooperberg, Charles, additional, and Manson, JoAnn E., additional

Published
2021
Full Text
View/download PDF

41. LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks

Author

Goldstein, Jeffery A., primary, Weinstock, Joshua S., additional, Bastarache, Lisa A., additional, Larach, Daniel B., additional, Fritsche, Lars G., additional, Schmidt, Ellen M., additional, Brummett, Chad M., additional, Kheterpal, Sachin, additional, Abecasis, Goncalo R., additional, Denny, Joshua C., additional, and Zawistowski, Matthew, additional

Published
2020
Full Text
View/download PDF

43. Cognitive Function Assessment in Patients on Moderate- or High-Intensity Statin Therapy

Author

Roy, Satyajeet, primary, Hyman, Daniel, additional, Ayyala, Srinivas, additional, Bakhshi, Aditya, additional, Kim, Sang Hoon, additional, Anoruo, Nancy, additional, Weinstock, Joshua, additional, Balogun, Ayobamidele, additional, D’Souza, Michelle, additional, Filatova, Nika, additional, Penabad, Jesus, additional, Shah, Pratik, additional, Perez, Christopher, additional, Mehta, Anita, additional, and Hunter, Krystal, additional

Published
2020
Full Text
View/download PDF

44. Novel genetic determinants of telomere length from a multi-ethnic analysis of 75,000 whole genome sequences in TOPMed

Author

Taub, Margaret A, Weinstock, Joshua S, Iyer, Kruthika R, Yanek, Lisa R, Conomos, Matthew P, Brody, Jennifer A, Keramati, Ali, Laurie, Cecelia A, Arvanitis, Marios, Smith, Albert V, Lane, John, Becker, Lewis C, Bis, Joshua C, Blangero, John, Bleecker, Eugene R, Burchard, Esteban G, Celedon, Juan C, Chang, Yen Pei C, Custer, Brian, Darbar, Dawood, de las Fuentes, Lisa, DeMeo, Dawn L, Freedman, Barry I, Garrett, Melanie E, Gladwin, Mark T, Heckbert, Susan R, Hidalgo, Bertha A, Ingram, Christie, Irvin, Marguerite R, Craig Johnson, W, Kaab, Stefan, Launer, Lenore, Lee, Jiwon, Liu, Simin, Moscati, Arden, North, Kari E, Peyser, Patricia A, Rafaels, Nicholas, Raffield, Laura M, Weeks, Daniel E, Wheeler, Marsha M, Keoki Williams, L., Zhao, Wei, Armanios, Mary, Aslibekyan, Stella, Auer, Paul L, Bowden, Donald W, Cade, Brian E, Yii-Der Chen, Ida, Cho, Michael H, Cupples, L Adrienne, Curran, Joanne E, Daya, Michelle, Deka, Ranjan, Guo, Xiuqing, Hou, Lifang, Hwang, Shih-Jen, Johnsen, Jill M, Kenny, Eimear E, Levin, Albert M, Liu, Chunyu, Minster, Ryan L, Nouraie, Mehdi, Sabino, Ester C, Smith, Jennifer A, Smith, Nicholas L, Lasky Su, Jessica, Telen, Marilyn J, Tiwari, Hemant K, Tracy, Russell P, White, Marquitta J, Zhang, Yingze, Wiggins, Kerri L, Weiss, Scott T, Vasan, Ramachandran S, Taylor, Kent D, Sinner, Moritz F, Silverman, Edwin K, Benjamin Shoemaker, M., Sheu, Wayne H-H, Rotter, Jerome I, Redline, Susan, Psaty, Bruce M, Peralta, Juan M, Palmer, Nicholette D, Loos, Ruth JF, Montgomery, Courtney G, Mitchell, Braxton D, Meyers, Deborah A, McGarvey, Stephen T, Mak, Angel CY, Kumar, Rajesh, Kooperberg, Charles, Konkle, Barbara A, Kelly, Shannon, Kardia, Sharon LR, Kaplan, Robert, He, Jiang, Gui, Hongsheng, Fornage, Myriam, Ellinor, Patrick T, de Andrade, Mariza, Correa, Adolfo, Boerwinkle, Eric, Barnes, Kathleen C, Ashley-Koch, Allison E, Arnett, Donna K, Albert, Christine, Laurie, Cathy C, Abecasis, Goncalo, Aviv, Abraham, Nickerson, Deborah A, Wilson, James G, Rich, Stephen S, Levy, Daniel, Battle, Alexis, Blackwell, Thomas W, Ruczinski, Ingo, Thornton, Timothy, O’Connell, Jeff, Perry, James A, Pankratz, Nathan, Reiner, Alexander P, and Mathias, Rasika A

Abstract

Telomeres shorten in replicating somatic cells and with age; in human leukocytes, telomere length (TL) is associated with a host of aging-related diseases 1,2 . To date, 16 genome-wide association studies (GWAS) have identified twenty-three loci associated with leukocyte TL 3–18 , but prior studies were primarily in individuals of European and Asian ancestry and relied on laboratory assays including Southern Blot and qPCR to quantify TL. Here, we estimated TL bioinformatically, leveraging whole genome sequencing (WGS) of whole blood from n=75,176 subjects in the Trans-Omics for Precision Medicine (TOPMed) Program. We performed the largest multi-ethnic and only WGS-based genome-wide association analysis of TL to date. We identified 22 associated loci (p-value

Published
2019
Full Text
View/download PDF

47. Exome-wide association study of plasma lipids in > 300,000 individuals

Author

Liu, Dajiang J., Peloso, Gina M., Yu, Haojie, Butterworth, Adam S., Wang, Xiao, Mahajan, Anubha, Saleheen, Danish, Emdin, Connor, Alam, Dewan, Alves, Alexessander Couto, Amouyel, Philippe, Di Angelantonio, Emanuele, Arveiler, Dominique, Assimes, Themistocles L., Auer, Paul L., Baber, Usman, Ballantyne, Christie M., Bang, Lia E., Benn, Marianne, Bis, Joshua C., Boehnke, Michael, Boerwinkle, Eric, Bork-Jensen, Jette, Bottinger, Erwin P., Brandslund, Ivan, Brown, Morris, Busonero, Fabio, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Y. Eugene, Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Connell, John M., Cucca, Francesco, Cupples, L. Adrienne, Damrauer, Scott M., Davies, Gail, Deary, Ian J., Dedoussis, George, Denny, Joshua C., Dominiczak, Anna, Dube, Marie-Pierre, Ebeling, Tapani, Eiriksdottir, Gudny, Esko, Tonu, Farmaki, Aliki-Eleni, Feitosa, Mary F., Ferrario, Marco, Ferrieres, Jean, Ford, Ian, Fornage, Myriam, Franks, Paul W., Frayling, Timothy M., Frikke-Schmidt, Ruth, Fritsche, Lars G., Frossard, Philippe, Fuster, Valentin, Ganesh, Santhi K., Gao, Wei, Garcia, Melissa E., Gieger, Christian, Giulianini, Franco, Goodarzi, Mark O., Grallert, Harald, Grarup, Niels, Groop, Leif, Grove, Megan L., Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hirschhorn, Joel N., Holmen, Oddgeir L., Huffman, Jennifer, Huo, Yong, Hveem, Kristian, Jabeen, Sehrish, Jackson, Anne U., Jakobsdottir, Johanna, Jarvelin, Marjo-Riitta, Jensen, Gorm B., Jorgensen, Marit E., Jukema, J. Wouter, Justesen, Johanne M., Kamstrup, Pia R., Kanoni, Stavroula, Karpe, Fredrik, Kee, Frank, Khera, Amit V., Klarin, Derek, Koistinen, Heikki A., Kooner, Jaspal S., Kooperberg, Charles, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo, Langenberg, Claudia, Langsted, Anne, Launer, Lenore J., Lauritzen, Torsten, Liewald, David C. M., Lin, Li An, Linneberg, Allan, Loos, Ruth J. F., Lu, Yingchang, Lu, Xiangfeng, Magi, Reedik, Malarstig, Anders, Manichaikul, Ani, Manning, Alisa K., Mantyselka, Pekka, Marouli, Eirini, Masca, Nicholas G. D., Maschio, Andrea, Meigs, James B., Melander, Olle, Metspalu, Andres, Morris, Andrew P., Morrison, Alanna C., Mulas, Antonella, Mueller-Nurasyid, Martina, Munroe, Patricia B., Neville, Matt J., Nielsen, Jonas B., Nielsen, Sune F., Nordestgaard, Borge G., Ordovas, Jose M., Mehran, Roxana, O'Donnell, Christoper J., Orho-Melander, Marju, Molony, Cliona M., Muntendam, Pieter, Padmanabhan, Sandosh, Palmer, Colin N. A., Pasko, Dorota, Patel, Aniruddh P., Pedersen, Oluf, Perola, Markus, Peters, Annette, Pisinger, Charlotta, Pistis, Giorgio, Polasek, Ozren, Poulter, Neil, Psaty, Bruce M., Rader, Daniel J., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Renström, Frida, Rich, Stephen S., Ridker, Paul M., Rioux, John D., Robertson, Neil R., Roden, Dan M., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Sanna, Serena, Sattar, Naveed, Schmidt, Ellen M., Scott, Robert A., Sever, Peter, Sevilla, Raquel S., Shaffer, Christian M., Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S., Smith, Albert V., Smith, Blair H., Somayajula, Sangeetha, Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stirrups, Kathleen E., Stitziel, Nathan, Strauch, Konstantin, Stringham, Heather M., Surendran, Praveen, Tada, Hayato, Tall, Alan R., Tang, Hua, Tardif, Jean-Claude, Taylor, Kent D., Trompet, Stella, Tsao, Philip S., Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, van Zuydam, Natalie R., Varbo, Anette, Varga, Tibor V., Virtamo, Jarmo, Waldenberger, Melanie, Wang, Nan, Wareham, Nick J., Warren, Helen R., Weeke, Peter E., Weinstock, Joshua, Wessel, Jennifer, Wilson, James G., Wilson, Peter W. F., Xu, Ming, Yaghootkar, Hanieh, Young, Robin, Zeggini, Eleftheria, Zhang, He, Zheng, Neil S., Zhang, Weihua, Zhang, Yan, Zhou, Wei, Zhou, Yanhua, Zoledziewska, Magdalena, Howson, Joanna M. M., Danesh, John, McCarthy, Mark I., Cowan, Chad A., Abecasis, Goncalo, Deloukas, Panos, Musunuru, Kiran, Willer, Cristen J., Kathiresan, Sekar, Liu, Dajiang J., Peloso, Gina M., Yu, Haojie, Butterworth, Adam S., Wang, Xiao, Mahajan, Anubha, Saleheen, Danish, Emdin, Connor, Alam, Dewan, Alves, Alexessander Couto, Amouyel, Philippe, Di Angelantonio, Emanuele, Arveiler, Dominique, Assimes, Themistocles L., Auer, Paul L., Baber, Usman, Ballantyne, Christie M., Bang, Lia E., Benn, Marianne, Bis, Joshua C., Boehnke, Michael, Boerwinkle, Eric, Bork-Jensen, Jette, Bottinger, Erwin P., Brandslund, Ivan, Brown, Morris, Busonero, Fabio, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Y. Eugene, Chen, Yii-Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Connell, John M., Cucca, Francesco, Cupples, L. Adrienne, Damrauer, Scott M., Davies, Gail, Deary, Ian J., Dedoussis, George, Denny, Joshua C., Dominiczak, Anna, Dube, Marie-Pierre, Ebeling, Tapani, Eiriksdottir, Gudny, Esko, Tonu, Farmaki, Aliki-Eleni, Feitosa, Mary F., Ferrario, Marco, Ferrieres, Jean, Ford, Ian, Fornage, Myriam, Franks, Paul W., Frayling, Timothy M., Frikke-Schmidt, Ruth, Fritsche, Lars G., Frossard, Philippe, Fuster, Valentin, Ganesh, Santhi K., Gao, Wei, Garcia, Melissa E., Gieger, Christian, Giulianini, Franco, Goodarzi, Mark O., Grallert, Harald, Grarup, Niels, Groop, Leif, Grove, Megan L., Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hirschhorn, Joel N., Holmen, Oddgeir L., Huffman, Jennifer, Huo, Yong, Hveem, Kristian, Jabeen, Sehrish, Jackson, Anne U., Jakobsdottir, Johanna, Jarvelin, Marjo-Riitta, Jensen, Gorm B., Jorgensen, Marit E., Jukema, J. Wouter, Justesen, Johanne M., Kamstrup, Pia R., Kanoni, Stavroula, Karpe, Fredrik, Kee, Frank, Khera, Amit V., Klarin, Derek, Koistinen, Heikki A., Kooner, Jaspal S., Kooperberg, Charles, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo, Langenberg, Claudia, Langsted, Anne, Launer, Lenore J., Lauritzen, Torsten, Liewald, David C. M., Lin, Li An, Linneberg, Allan, Loos, Ruth J. F., Lu, Yingchang, Lu, Xiangfeng, Magi, Reedik, Malarstig, Anders, Manichaikul, Ani, Manning, Alisa K., Mantyselka, Pekka, Marouli, Eirini, Masca, Nicholas G. D., Maschio, Andrea, Meigs, James B., Melander, Olle, Metspalu, Andres, Morris, Andrew P., Morrison, Alanna C., Mulas, Antonella, Mueller-Nurasyid, Martina, Munroe, Patricia B., Neville, Matt J., Nielsen, Jonas B., Nielsen, Sune F., Nordestgaard, Borge G., Ordovas, Jose M., Mehran, Roxana, O'Donnell, Christoper J., Orho-Melander, Marju, Molony, Cliona M., Muntendam, Pieter, Padmanabhan, Sandosh, Palmer, Colin N. A., Pasko, Dorota, Patel, Aniruddh P., Pedersen, Oluf, Perola, Markus, Peters, Annette, Pisinger, Charlotta, Pistis, Giorgio, Polasek, Ozren, Poulter, Neil, Psaty, Bruce M., Rader, Daniel J., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Renström, Frida, Rich, Stephen S., Ridker, Paul M., Rioux, John D., Robertson, Neil R., Roden, Dan M., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Sanna, Serena, Sattar, Naveed, Schmidt, Ellen M., Scott, Robert A., Sever, Peter, Sevilla, Raquel S., Shaffer, Christian M., Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S., Smith, Albert V., Smith, Blair H., Somayajula, Sangeetha, Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stirrups, Kathleen E., Stitziel, Nathan, Strauch, Konstantin, Stringham, Heather M., Surendran, Praveen, Tada, Hayato, Tall, Alan R., Tang, Hua, Tardif, Jean-Claude, Taylor, Kent D., Trompet, Stella, Tsao, Philip S., Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, van Zuydam, Natalie R., Varbo, Anette, Varga, Tibor V., Virtamo, Jarmo, Waldenberger, Melanie, Wang, Nan, Wareham, Nick J., Warren, Helen R., Weeke, Peter E., Weinstock, Joshua, Wessel, Jennifer, Wilson, James G., Wilson, Peter W. F., Xu, Ming, Yaghootkar, Hanieh, Young, Robin, Zeggini, Eleftheria, Zhang, He, Zheng, Neil S., Zhang, Weihua, Zhang, Yan, Zhou, Wei, Zhou, Yanhua, Zoledziewska, Magdalena, Howson, Joanna M. M., Danesh, John, McCarthy, Mark I., Cowan, Chad A., Abecasis, Goncalo, Deloukas, Panos, Musunuru, Kiran, Willer, Cristen J., and Kathiresan, Sekar

Abstract

We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-densitylipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD.

Published
2017
Full Text
View/download PDF

48. Exome-wide association study of plasma lipids in >300,000 individuals

Author

Liu, Dajiang J., Peloso, Gina M., Yu, Haojie, Butterworth, Adam S., Wang, Xiao, Mahajan, Anubha, Saleheen, Danish, Emdin, Connor, Alam, Dewan, Alves, Alexessander Couto, Amouyel, Philippe, Angelantonio, Emanuele DI, Arveiler, Dominique, Assimes, Themistocles L., Auer, Paul L., Baber, Usman, Ballantyne, Christie M., Bang, Lia E., Benn, Marianne, Bis, Joshua C., Boehnke, Michael, Boerwinkle, Eric, Bork-Jensen, Jette, Bottinger, Erwin P., Brandslund, Ivan, Brown, Morris, Busonero, Fabio, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Y. Eugene, Chen, Yii Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Connell, John M., Cucca, Francesco, Cupples, L. Adrienne, Damrauer, Scott M., Davies, Gail, Deary, Ian J., Dedoussis, George, Denny, Joshua C., Dominiczak, Anna, Dubé, Marie Pierre, Ebeling, Tapani, Eiriksdottir, Gudny, Esko, Toñu, Farmaki, Aliki Eleni, Feitosa, Mary F., Ferrario, Marco, Ferrieres, Jean, Ford, Ian, Fornage, Myriam, Franks, Paul W., Frayling, Timothy M., Frikke-Schmidt, Ruth, Fritsche, Lars G., Frossard, Philippe, Fuster, Valentin, Ganesh, Santhi K., Gao, Wei, Garcia, Melissa E., Gieger, Christian, Giulianini, Franco, Goodarzi, Mark O., Grallert, Harald, Grarup, Niels, Groop, Leif, Grove, Megan L., Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hirschhorn, Joel N., Holmen, Oddgeir L., Huffman, Jennifer, Huo, Yong, Hveem, Kristian, Jabeen, Sehrish, Jackson, Anne U., Jakobsdottir, Johanna, Jarvelin, Marjo Riitta, Jensen, Gorm B., Jørgensen, Marit E., Jukema, J. Wouter, Justesen, Johanne M., Kamstrup, Pia R., Kanoni, Stavroula, Karpe, Fredrik, Kee, Frank, Khera, Amit V., Klarin, Derek, Koistinen, Heikki A., Kooner, Jaspal S., Kooperberg, Charles, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo, Langenberg, Claudia, Langsted, Anne, Launer, Lenore J., Lauritzen, Torsten, MLiewald, David C., Lin, Li An, Linneberg, Allan, Loos, Ruth J.F., Lu, Yingchang, Lu, Xiangfeng, Mägi, Reedik, Malarstig, Anders, Manichaikul, Ani, Manning, Alisa K., Mäntyselkä, Pekka, Marouli, Eirini, Masca, Nicholas G.D., Maschio, Andrea, Meigs, James B., Melander, Olle, Metspalu, Andres, Morris, Andrew P., Morrison, Alanna C., Mulas, Antonella, Müller-Nurasyid, Martina, Munroe, Patricia B., Neville, Matt J., Nielsen, Sune F., Nielsen, Jonas B., Nordestgaard, Børge G., Ordovas, Jose M., Mehran, Roxana, O'Donnell, Christoper J., Orho-Melander, Marju, Molony, Cliona M., Muntendam, Pieter, Padmanabhan, Sandosh, Palmer, Colin N.A., Pasko, Dorota, Patel, Aniruddh P., Pedersen, Oluf, Perola, Markus, Peters, Annette, Pisinger, Charlotta, Pistis, Giorgio, Polasek, Ozren, Poulter, Neil, Psaty, Bruce M., Rader, Daniel J., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Renström, Frida, Rich, Stephen S., Ridker, Paul M., Rioux, John D., Robertson, Neil R., Roden, Dan M., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Sanna, Serena, Sattar, Naveed, Schmidt, Ellen M., Scott, Robert A., Sever, Peter, Sevilla, Raquel S., Shaffer, Christian M., Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S., Smith, Albert V., Smith, Blair H., Somayajula, Sangeetha, Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stirrups, Kathleen E., Stitziel, Nathan, Strauch, Konstantin, Stringham, Heather M., Surendran, Praveen, Tada, Hayato, Tall, Alan R., Tang, Hua, Tardif, Jean Claude, Taylor, Kent D., Trompet, Stella, Tsao, Philip S., Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Zuydam, Natalie R.Van, Varbo, Anette, Varga, Tibor V., Virtamo, Jarmo, Waldenberger, Melanie, Wang, Nan, Wareham, Nick J., Warren, Helen R., Weeke, Peter E., Weinstock, Joshua, Wessel, Jennifer, Wilson, James G., Wilson, Peter W.F., Xu, Ming, Yaghootkar, Hanieh, Young, Robin, Zeggini, Eleftheria, Zhang, He, Zheng, Neil S., Zhang, Weihua, Zhang, Yan, Zhou, Wei, Zhou, Yanhua, Zoledziewska, Magdalena, Howson, Joanna M.M., Danesh, John, McCarthy, Mark I., Cowan, Chad A., Abecasis, Goncalo, Deloukas, Panos, Musunuru, Kiran, Willer, Cristen J., Kathiresan, Sekar, V Varga, Tibor, Liu, Dajiang J., Peloso, Gina M., Yu, Haojie, Butterworth, Adam S., Wang, Xiao, Mahajan, Anubha, Saleheen, Danish, Emdin, Connor, Alam, Dewan, Alves, Alexessander Couto, Amouyel, Philippe, Angelantonio, Emanuele DI, Arveiler, Dominique, Assimes, Themistocles L., Auer, Paul L., Baber, Usman, Ballantyne, Christie M., Bang, Lia E., Benn, Marianne, Bis, Joshua C., Boehnke, Michael, Boerwinkle, Eric, Bork-Jensen, Jette, Bottinger, Erwin P., Brandslund, Ivan, Brown, Morris, Busonero, Fabio, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Chen, Y. Eugene, Chen, Yii Der Ida, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y., Connell, John M., Cucca, Francesco, Cupples, L. Adrienne, Damrauer, Scott M., Davies, Gail, Deary, Ian J., Dedoussis, George, Denny, Joshua C., Dominiczak, Anna, Dubé, Marie Pierre, Ebeling, Tapani, Eiriksdottir, Gudny, Esko, Toñu, Farmaki, Aliki Eleni, Feitosa, Mary F., Ferrario, Marco, Ferrieres, Jean, Ford, Ian, Fornage, Myriam, Franks, Paul W., Frayling, Timothy M., Frikke-Schmidt, Ruth, Fritsche, Lars G., Frossard, Philippe, Fuster, Valentin, Ganesh, Santhi K., Gao, Wei, Garcia, Melissa E., Gieger, Christian, Giulianini, Franco, Goodarzi, Mark O., Grallert, Harald, Grarup, Niels, Groop, Leif, Grove, Megan L., Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hirschhorn, Joel N., Holmen, Oddgeir L., Huffman, Jennifer, Huo, Yong, Hveem, Kristian, Jabeen, Sehrish, Jackson, Anne U., Jakobsdottir, Johanna, Jarvelin, Marjo Riitta, Jensen, Gorm B., Jørgensen, Marit E., Jukema, J. Wouter, Justesen, Johanne M., Kamstrup, Pia R., Kanoni, Stavroula, Karpe, Fredrik, Kee, Frank, Khera, Amit V., Klarin, Derek, Koistinen, Heikki A., Kooner, Jaspal S., Kooperberg, Charles, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo, Langenberg, Claudia, Langsted, Anne, Launer, Lenore J., Lauritzen, Torsten, MLiewald, David C., Lin, Li An, Linneberg, Allan, Loos, Ruth J.F., Lu, Yingchang, Lu, Xiangfeng, Mägi, Reedik, Malarstig, Anders, Manichaikul, Ani, Manning, Alisa K., Mäntyselkä, Pekka, Marouli, Eirini, Masca, Nicholas G.D., Maschio, Andrea, Meigs, James B., Melander, Olle, Metspalu, Andres, Morris, Andrew P., Morrison, Alanna C., Mulas, Antonella, Müller-Nurasyid, Martina, Munroe, Patricia B., Neville, Matt J., Nielsen, Sune F., Nielsen, Jonas B., Nordestgaard, Børge G., Ordovas, Jose M., Mehran, Roxana, O'Donnell, Christoper J., Orho-Melander, Marju, Molony, Cliona M., Muntendam, Pieter, Padmanabhan, Sandosh, Palmer, Colin N.A., Pasko, Dorota, Patel, Aniruddh P., Pedersen, Oluf, Perola, Markus, Peters, Annette, Pisinger, Charlotta, Pistis, Giorgio, Polasek, Ozren, Poulter, Neil, Psaty, Bruce M., Rader, Daniel J., Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F., Reiner, Alex P., Renström, Frida, Rich, Stephen S., Ridker, Paul M., Rioux, John D., Robertson, Neil R., Roden, Dan M., Rotter, Jerome I., Rudan, Igor, Salomaa, Veikko, Samani, Nilesh J., Sanna, Serena, Sattar, Naveed, Schmidt, Ellen M., Scott, Robert A., Sever, Peter, Sevilla, Raquel S., Shaffer, Christian M., Sim, Xueling, Sivapalaratnam, Suthesh, Small, Kerrin S., Smith, Albert V., Smith, Blair H., Somayajula, Sangeetha, Southam, Lorraine, Spector, Timothy D., Speliotes, Elizabeth K., Starr, John M., Stirrups, Kathleen E., Stitziel, Nathan, Strauch, Konstantin, Stringham, Heather M., Surendran, Praveen, Tada, Hayato, Tall, Alan R., Tang, Hua, Tardif, Jean Claude, Taylor, Kent D., Trompet, Stella, Tsao, Philip S., Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Zuydam, Natalie R.Van, Varbo, Anette, Varga, Tibor V., Virtamo, Jarmo, Waldenberger, Melanie, Wang, Nan, Wareham, Nick J., Warren, Helen R., Weeke, Peter E., Weinstock, Joshua, Wessel, Jennifer, Wilson, James G., Wilson, Peter W.F., Xu, Ming, Yaghootkar, Hanieh, Young, Robin, Zeggini, Eleftheria, Zhang, He, Zheng, Neil S., Zhang, Weihua, Zhang, Yan, Zhou, Wei, Zhou, Yanhua, Zoledziewska, Magdalena, Howson, Joanna M.M., Danesh, John, McCarthy, Mark I., Cowan, Chad A., Abecasis, Goncalo, Deloukas, Panos, Musunuru, Kiran, Willer, Cristen J., Kathiresan, Sekar, and V Varga, Tibor

Abstract

We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-densitylipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TGrich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD.

Published
2017

49. Association of Cognitive Impairment in Patients on 3-Hydroxy-3-Methyl-Glutaryl-CoA Reductase Inhibitors

Author

Roy, Satyajeet, primary, Weinstock, Joshua Louis, additional, Ishino, Allyse Sachiko, additional, Benites, Jefferson Felix, additional, Pop, Samantha Rachel, additional, Perez, Christopher David, additional, Gumbs, Edvard Adrian, additional, Rosenbaum, Jennifer Ann, additional, Roccato, Mary Kate, additional, Shah, Hely, additional, Contino, Gabriela, additional, and Hunter, Krystal, additional

Published
2017
Full Text
View/download PDF

50. A genetic-association study of circulating coagulation factor VIII and von Willebrand factor levels

Author

de Vries, Paul S., Reventun, Paula, Brown, Michael R., Heath, Adam S., Huffman, Jennifer E., Le, Ngoc-Quynh, Bebo, Allison, Brody, Jennifer A., Temprano-Sagrera, Gerard, Raffield, Laura M., Ozel, Ayse Bilge, Thibord, Florian, Jain, Deepti, Lewis, Joshua P., Rodriguez, Benjmain A. T., Pankratz, Nathan, Taylor, Kent D., Polasek, Ozren, Chen, Ming-Huei, Yanek, Lisa R., Carrasquilla, German D., Marioni, Riccardo E., Kleber, Marcus E., Trégouët, David-Alexandre, Yao, Jie, Li-Gao, Ruifang, Joshi, Peter K., Trompet, Stella, Martinez-Perez, Angel, Ghanbari, Mohsen, Howard, Tom E., Reiner, Alex P., Arvanitis, Marios, Ryan, Kathleen A., Bartz, Traci M., Rudan, Igor, Faraday, Nauder, Linneberg, Allan, Ekunwe, Lynette, Davies, Gail, Delgado, Graciela E., Suchon, Pierre, Guo, Xiuqing, Rosendaal, Frits R., Klaric, Lucija, Noordam, Raymond, van Rooij, Frank, Curran, Joanne E., Wheeler, Marsha M., Osburn, William O., O'Connell, Jeffrey R., Boerwinkle, Eric, Beswick, Andrew, Psaty, Bruce M., Kolcic, Ivana, Souto, Juan Carlos, Becker, Lewis C., Hansen, Torben, Doyle, Margaret F., Harris, Sarah E., Moissl, Angela P., Deleuze, Jean-François, Rich, Stephen S., van Hylckama Vlieg, Astrid, Campbell, Harry, Stott, David J., Soria, Jose Manuel, de Maat, Moniek P. M., Almasy, Laura, Brody, Lawrence C., Auer, Paul L., Abe, Namiko, Abecasis, Gonçalo, Aguet, Francois, Albert, Christine, Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Deborah, Ardlie, Kristin, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Ayas, Najib, Balasubramanian, Adithya, Barnard, John, Barnes, Kathleen, Barr, R. Graham, Barron-Casella, Emily, Barwick, Lucas, Beaty, Terri, Beck, Gerald, Becker, Diane, Becker, Lewis, Beer, Rebecca, Beitelshees, Amber, Benjamin, Emelia, Benos, Takis, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Blue, Nathan, Boerwinkle, Eric, Bowden, Donald W., Bowler, Russell, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Brown, Deborah, Bunting, Karen, Burchard, Esteban, Bustamante, Carlos, Buth, Erin, Cade, Brian, Cardwell, Jonathan, Carey, Vincent, Carrier, Julie, Carson, April P., Carty, Cara, Casaburi, Richard, Casas Romero, Juan P, Casella, James, Castaldi, Peter, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Chung, Ren-Hua, Clish, Clary, Comhair, Suzy, Conomos, Matthew, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L. Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, de las Fuentes, Lisa, de Vries, Paul, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Dugan-Perez, Shannon, Duggirala, Ravi, Durda, Jon Peter, Dutcher, Susan K., Eaton, Charles, Ekunwe, Lynette, El Boueiz, Adel, Ellinor, Patrick, Emery, Leslie, Erzurum, Serpil, Farber, Charles, Farek, Jesse, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Gelb, Bruce, Geraci, Mark, Germer, Soren, Gerszten, Robert, Ghosh, Auyon, Gibbs, Richard, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Graw, Sharon, Gray, Kathryn J., Grine, Daniel, Gross, Colin, Gu, C. Charles, Guan, Yue, Guo, Xiuqing, Gupta, Namrata, Haessler, Jeff, Hall, Michael, Han, Yi, Hanly, Patrick, Harris, Daniel, Hawley, Nicola L., He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hobbs, Brian, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Irvin, Marguerite Ryan, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Jiwon, Lee, Sandra, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Xiaohui, Li, Yun, Lin, Henry, Lin, Honghuang, Lin, Xihong, Liu, Simin, Liu, Yongmei, Liu, Yu, Loos, Ruth J. F., Lubitz, Steven, Lunetta, Kathryn, Luo, James, Magalang, Ulysses, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, Mathias, Rasika, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, McGoldrick, Daniel, McHugh, Caitlin, McNeil, Becky, Mei, Hao, Meigs, James, Menon, Vipin, Mestroni, Luisa, Metcalf, Ginger, Meyers, Deborah A, Mignot, Emmanuel, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton D., Moll, Matt, Momin, Zeineen, Montasser, May E., Montgomery, Courtney, Muzny, Donna, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nekhai, Sergei, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nickerson, Deborah, Nkechinyere, Osuji, North, Kari, O'Connell, Jeff, O'Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pack, Allan, Paik, David T., Palmer, Nicholette, Pankow, James, Papanicolaou, George, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Lawrence S, Pleiness, Jacob, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Rajendran, Mahitha, Ramachandran, Vasan S., Rao, D. C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Reeves, Catherine, Regan, Elizabeth, Reiner, Alex, Reupena, Muagututi‘a Sefuiva, Rice, Ken, Rich, Stephen, Robillard, Rebecca, Robine, Nicolas, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sabino, Ester Cerdeira, Saleheen, Danish, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay G., Santibanez, Jireh, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Seidman, Jonathan, Sériès, Frédéric, Sheehan, Vivien, Sherman, Stephanie L., Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Shoemaker, M. Benjamin, Silver, Brian, Silverman, Edwin, Skomro, Robert, Smith, Albert Vernon, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Snyder, Michael, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent D., Taylor, Matthew, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tishkoff, Sarah, Tiwari, Hemant, Tong, Catherine, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, Van Den Berg, David, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Wang, Jiongming, Watson, Karol, Watt, Jennifer, Weeks, Daniel E., Weinstock, Joshua, Weir, Bruce, Weiss, Scott T, Weng, Lu-Chen, Wessel, Jennifer, Willer, Cristen, Williams, Kayleen, Williams, L. Keoki, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Joseph, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yu, Ketian, Zekavat, Seyedeh Maryam, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Ziv, Elad, Zody, Michael, Zoellner, Sebastian, Lindstrom, Sara, Wang, Lu, Smith, Erin N., Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A., Pattee, Jack W., Haessler, Jeffrey, Brumpton, Ben M., Chasman, Daniel I., Suchon, Pierre, Chen, Ming-Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L., MacDonald, James, Braekkan, Sigrid K., Armasu, Sebastian M., Pankratz, Nathan, Jackson, Rabecca D., Nielsen, Jonas B., Giulianini, Franco, Puurunen, Marja K., Ibrahim, Manal, Heckbert, Susan R., Bammler, Theo K., Frazer, Kelly A., McCauley, Bryan M., Taylor, Kent, Pankow, James S., Reiner, Alexander P., Gabrielsen, Maiken E., Deleuze, Jean-François, O'Donnell, Chris J., Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R., Heit, John A., Psaty, Bruce M., Tang, Weihong, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M., Morange, Pierre-Emmanuel, Johnson, Andrew D., Kabrhel, Christopher, AlexandreTrégouët, David, Smith, Nicholas L., Mitchell, Braxton D., Ben-Shlomo, Yoav, Fornage, Myriam, Hayward, Caroline, Mathias, Rasika A., Kilpeläinen, Tuomas O., Lange, Leslie A., Cox, Simon R., März, Winfried, Morange, Pierre-Emmanuel, Rotter, Jerome I., Mook-Kanamori, Dennis O., Wilson, James F., van der Harst, Pim, Jukema, J. Wouter, Ikram, M. Arfan, Blangero, John, Kooperberg, Charles, Desch, Karl C., Johnson, Andrew D., Sabater-Lleal, Maria, Lowenstein, Charles J., Smith, Nicholas L., and Morrison, Alanna C.

Abstract

•We identified 7 new genetic regions for factor VIII levels, 1 for von Willebrand factor levels, and 3 in a combined analysis.•Silencing B3GNT2and CD36reduced factor VIII release in vitro.Silencing B3GNT2, CD36, and PDIA3reduced von Willebrand factor release.

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results