Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

He Gao | Tim Kacprowski | Andres Metspalu | Todd L Edwards | Marie-Pierre Dubé | Ming-Huei Chen | Alexander Teumer | Eric Boerwinkle | Vilmundur Gudnason | Olle Melander | Tamara B Harris | Deborah A Nickerson | Evangelos Evangelou | Frank Schmidt | A. J. Slater | Andrew D. Johnson | Reedik Mägi | Ioanna Tzoulaki | Mary Cushman | Torben Hansen | Fernando Rivadeneira | Latisha Love-Gregory | Bruce M Psaty | Caroline Hayward | Rasika A Mathias | Yingchang Lu | Niels Grarup | Jette Bork-Jensen | Allan Linneberg | Sekar Kathiresan | Marju Orho-Melander | Tõnu Esko | Albert Hofman | Amber Burt | Akihiro Nomura | Cornelia M van Duijn | Paul Elliott | Ayush Giri | Terho Lehtimäki | Mika Kähönen | Nathan Pankratz | Lenore J Launer | Myriam Fornage | Andreas Greinacher | Andrew D Johnson | Astrid Petersmann | Oluf Pedersen | Jennifer A Brody | Kenneth M Rice | Anne-Claire Vergnaud | Joel N Hirschhorn | Olli T Raitakari | Ian J Deary | Ethan Lange | Melissa Richard | Kjell Nikus | Ani Manichaikul | Eric S Torstenson | Frank J A van Rooij | Russell P Tracy | P. Elliott | M. Fornage | M. Nalls | A. Hofman | A. Reiner | I. Deary | R. Mägi | E. Mihailov | T. Lehtimäki | E. Boerwinkle | D. Nickerson | T. Hansen | O. Pedersen | N. Grarup | J. Hirschhorn | V. Gudnason | Albert Vernon Smith | A. Zonderman | M. Evans | H. White | O. Raitakari | F. Rivadeneira | Yongmei Liu | B. Psaty | E. Lange | A. Metspalu | T. Esko | S. Kathiresan | G. Lettre | O. Melander | M. Orho-Melander | K. Taylor | J. Rotter | L. Becker | T. Harris | J. Brody | J. Starr | D. Becker | K. Rice | C. V. van Duijn | C. O’Donnell | C. Schurmann | A. Petersmann | A. Teumer | G. Engström | James G. Wilson | N. Mononen | E. Bottinger | C. Hayward | M. Kähönen | L. Launer | F. V. van Rooij | Melissa A. Richard | T. Bartz | S. Tajuddin | L. Yanek | E. Evangelou | He Gao | A. Slater | T. Kacprowski | S. Ganesh | J. Bork-Jensen | M. Dubé | R. Loos | L. Lyytikäinen | L. Wallentin | R. Mathias | I. Tzoulaki | P. Auer | A. Linneberg | B. Thuesen | C. Duijn | Ming-Huei Chen | D. Waterworth | M. Cushman | Yingchang Lu | H. Highland | A. Burt | S. de Denus | T. Edwards | A. Giri | J. Hernesniemi | L. Lange | Jin Li | K. Nikus | D. V. Edwards | W. Hill | A. Manichaikul | R. Pazoki | R. Tracy | N. Pankratz | A. Vergnaud | M. Irvin | M. O’Donoghue | U. Schick | N. Chami | F. Schmidt | A. Greinacher | D. V. Velez Edwards | N. Zakai | D. Crosslin | L. Raffield | E. Torstenson | J. Eicher | N. Abumrad | S. Lessard | J. Floyd | N. Faraday | E. Raitoharju | D. Liewald | Harvey D White | Lewis C Becker | Diane M Becker | Yongmei Liu | David R Crosslin | Claudia Schurmann | Alexander P Reiner | Michele K Evans | Alan B Zonderman | Jerome I Rotter | John M Starr | Evelin Mihailov | Gunnar Engström | Guillaume Lettre | Lisa R Yanek | James G Wilson | Santhi K Ganesh | Mike A Nalls | Laura M Raffield | Heather M Highland | Dawn M Waterworth | Leo-Pekka Lyytikäinen | Ruth J F Loos | A. Nomura | Jussi Hernesniemi | Emma Raitoharju | Marguerite R Irvin | Paul L Auer | John D Eicher | Nina Mononen | Traci M Bartz | S. Denus | Leslie A Lange | Jennifer A. Brody | Lars Wallentin | Kent D Taylor | Ursula M Schick | Erwin P Bottinger | David C M Liewald | James S Floyd | L. Love-Gregory | Nauder Faraday | Michelle L O'Donoghue | Raha Pazoki | Nathalie Chami | Andrew J Slater | Salman M Tajuddin | Samuel Lessard | W David Hill | Simon de Denus | Jin Li | Chris J O'Donnell | Linda Polfus | Betina H Thuesen | Neil A Zakai | Caterina Vacchi-Suzzi | Digna R Velez Edwards | Nada A Abumrad | Caterina Vacchi-Suzzi | A. Smith | A. Johnson | L. Polfus | F. V. Rooij | A. Hofman | A. Smith | M. Richard | M. Kähönen | B. Psaty | R. Loos | Ayush Giri | Christopher J. O'Donnell | T. Hansen | K. Taylor

[1]  A. J. Slater,et al.  Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. , 2016, American journal of human genetics.

[2]  A. J. Slater,et al.  Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. , 2016, American journal of human genetics.

[3]  Lorna M. Lopez,et al.  A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. , 2016, Human molecular genetics.

[4]  T. Hensch,et al.  Defects in Synaptic Plasticity, Reduced NMDA-Receptor Transport, and Instability of Postsynaptic Density Proteins in Mice Lacking Microtubule-Associated Protein 1A , 2015, The Journal of Neuroscience.

[5]  Aml Mohamed Nada.  Red cell distribution width in type 2 diabetic patients , 2015, Diabetes, metabolic syndrome and obesity : targets and therapy.

[6]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[7]  Alan M. Kwong,et al.  Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers , 2015, Nature Genetics.

[8]  Jun S. Liu,et al.  The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans , 2015, Science.

[9]  J. Higgins,et al.  Modulation of red blood cell population dynamics is a fundamental homeostatic response to disease , 2015, American journal of hematology.

[10]  Lydie Pradel,et al.  Projet européen Blueprint - Vers une caractérisation épigénomique du système immunitaire , 2015 .

[11]  S. Spicuglia,et al.  [The European Blueprint project: towards a full epigenome characterization of the immune system]. , 2015, Medecine sciences : M/S.

[12]  P. Visscher,et al.  Title: Across-cohort Qc Analyses of Genome-wide Association Study Summary Statistics from Complex Traits Wray 1 , the Genetic Investigation of Anthropometric Traits (giant) Consortium , 2015 .

[13]  Karim Benkirane,et al.  Comparison of DNA methylation profiles in human fetal and adult red blood cell progenitors , 2015, Genome Medicine.

[14]  Jian-rong Zhang,et al.  Prognostic Value of Red Blood Cell Distribution Width for Patients with Heart Failure: A Systematic Review and Meta-Analysis of Cohort Studies , 2014, PloS one.

[15]  Y. Colin,et al.  Red cell adhesion in human diseases , 2014, Current opinion in hematology.

[16]  Zoltán Kutalik,et al.  Quality control and conduct of genome-wide association meta-analyses , 2014, Nature Protocols.

[17]  Uwe Völker,et al.  Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits , 2014, Nature Genetics.

[18]  Jennifer G. Robinson,et al.  Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. , 2014, American journal of human genetics.

[19]  Dajiang J. Liu,et al.  Meta-Analysis of Gene Level Tests for Rare Variant Association , 2013, Nature Genetics.

[20]  Andrew D. Johnson,et al.  Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs , 2014, BMC Genomics.

[21]  Tanya M. Teslovich,et al.  Discovery and refinement of loci associated with lipid levels , 2013, Nature Genetics.

[22]  Pedro G. Ferreira,et al.  Transcriptome and genome sequencing uncovers functional variation in humans , 2013, Nature.

[23]  Dan M Roden,et al.  Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree With Familial Dilated Cardiomyopathy , 2013, Circulation. Cardiovascular genetics.

[24]  Eric Boerwinkle,et al.  Best Practices and Joint Calling of the HumanExome BeadChip: The CHARGE Consortium , 2013, PloS one.

[25]  M. Nalls,et al.  Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. , 2013, Human molecular genetics.

[26]  K. Mann,et al.  The role of the red cell membrane in thrombin generation. , 2013, Thrombosis research.

[27]  Ellen T. Gelfand,et al.  The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.

[28]  Christian Gieger,et al.  Seventy-five genetic loci influencing the human red blood cell , 2012, Nature.

[29]  M. Fornage,et al.  Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations , 2012, PloS one.

[30]  Benjamin A. Logsdon,et al.  Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. , 2012, American journal of human genetics.

[31]  L. Afonso,et al.  Red cell distribution width and risk of peripheral artery disease: Analysis of National Health and Nutrition Examination Survey 1999–2004 , 2012, Vascular medicine.

[32]  Z. Ding,et al.  Cardiomyopathy in α-Kinase 3 (ALPK3)–Deficient Mice , 2012, Veterinary pathology.

[33]  W. Ouwehand,et al.  Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake. , 2011, Blood.

[34]  Tien Yin Wong,et al.  Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci , 2011, Nature Genetics.

[35]  Xiaofeng Zhu,et al.  Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection. , 2011, American journal of human genetics.

[36]  Christopher G Chute,et al.  Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. , 2011, American journal of human genetics.

[37]  Xihong Lin,et al.  Rare-variant association testing for sequencing data with the sequence kernel association test. , 2011, American journal of human genetics.

[38]  A. Reiner,et al.  A gene-centric association scan for Coagulation Factor VII levels in European and African Americans: the Candidate Gene Association Resource (CARe) Consortium. , 2011, Human molecular genetics.

[39]  J. Ghali,et al.  Red cell distribution width and mortality in predominantly African-American population with decompensated heart failure. , 2011, Journal of cardiac failure.

[40]  P. Elliott,et al.  Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels , 2011, Circulation.

[41]  Yun Li,et al.  METAL: fast and efficient meta-analysis of genomewide association scans , 2010, Bioinform..

[42]  C. Gieger,et al.  Duffy antigen receptor for chemokines (Darc) polymorphism regulates circulating concentrations of monocyte chemoattractant protein-1 and other inflammatory mediators. , 2010, Blood.

[43]  Lee-Jen Wei,et al.  Pooled Association Tests for Rare Variants in Exon-Resequencing Studies , 2010 .

[44]  M. Rocchi,et al.  CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute myeloid leukemia , 2010, Leukemia.

[45]  S. Bandinelli,et al.  Red cell distribution width and mortality in older adults: a meta-analysis. , 2010, The journals of gerontology. Series A, Biological sciences and medical sciences.

[46]  H J Meiselman,et al.  Mechanical stimulation of nitric oxide synthesizing mechanisms in erythrocytes. , 2009, Biorheology.

[47]  Christian Gieger,et al.  Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts , 2009, Nature Genetics.

[48]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[49]  J. L. Ding,et al.  Respiratory protein–generated reactive oxygen species as an antimicrobial strategy , 2007, Nature Immunology.

[50]  David Reich,et al.  Combining evidence of natural selection with association analysis increases power to detect malaria-resistance variants. , 2007, American journal of human genetics.

[51]  Qiong Yang,et al.  Evidence for linkage of red blood cell size and count: Genome‐wide scans in the Framingham Heart Study , 2007, American journal of hematology.

[52]  G. Abecasis,et al.  Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians , 2006, PLoS genetics.

[53]  S. Halpain,et al.  The MAP1 family of microtubule-associated proteins , 2006, Genome Biology.

[54]  Dieter Jahn,et al.  Crystal structure of 5‐aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans , 2005, The EMBO journal.

[55]  C. Brugnara,et al.  Iron deficiency and erythropoiesis: new diagnostic approaches. , 2003, Clinical chemistry.

[56]  Laurent R. Chiarelli,et al.  Structure and Function of Human Erythrocyte Pyruvate Kinase , 2002, The Journal of Biological Chemistry.

[57]  Jihong Han,et al.  Role of CD36, the Macrophage Class B Scavenger Receptor, in Atherosclerosis , 2001, Annals of the New York Academy of Sciences.

[58]  James Scott,et al.  Population genetics: Malaria susceptibility and CD36 mutation , 2000, Nature.

[59]  L. Snyder,et al.  Oxidation and erythrocyte senescence. , 2000, Current opinion in hematology.

[60]  N. Martin,et al.  Genetic and environmental causes of variation in basal levels of blood cells , 1999, Twin Research.

[61]  Estella,et al.  Molecular characterization of the PK‐LR gene in pyruvate kinase deficient Spanish patients , 1998, British journal of haematology.

[62]  S. Thibodeau,et al.  Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. , 1998, Science.

[63]  U. Dobbeling.  The effects of cyclosporin A on V(D)J recombination activity. , 1997 .

[64]  H. Alder,et al.  The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene , 1992, Cell.

[65]  T. Nakahata,et al.  Changes in cell surface antigen expressions during proliferation and differentiation of human erythroid progenitors. , 1992, Blood.

[66]  N. Martin,et al.  Genetic and environmental influences on the size and number of cells in the blood , 1985, Genetic epidemiology.