Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

Nicholette D. Palmer | A. Reiner | G. Abecasis | H. Kang | D. Schlessinger | M. Boehnke | W. Sheu | E. Bleecker | P. Ellinor | R. Vasan | Albert Vernon Smith | C. Kooperberg | J. Blangero | S. Weiss | C. Willer | S. Kathiresan | K. Taylor | J. Rotter | L. Becker | A. Ashley-Koch | Seunggeun Lee | K. Barnes | L. Bielak | P. Peyser | I. Surakka | M. Zawistowski | L. Cupples | S. Kheterpal | Xiuqing Guo | R. Jackson | P. Natarajan | James G. Wilson | S. Rich | Jennifer A. Smith | F. Cucca | D. Arnett | S. Choi | S. Musani | K. Schwander | L. Yanek | A. Correa | N. Palmer | J. Nielsen | L. Fritsche | W. Hornsby | Y. E. Chen | C. Brummett | D. Meyers | O. Holmen | K. Hveem | Jin Chen | C. Sidore | Yii-Der I. Chen | R. Mathias | Sayantani Das | J. Curran | C. Fuchsberger | M. Telen | J. Peralta | S. Lubitz | B. Åsvold | M. E. Gabrielsen | Xingnan Li | R. Chung | T. Blackwell | S. Graham | R. Tracy | S. Aslibekyan | V. Sheehan | Jifeng Zhang | M. Irvin | Yingze Zhang | B. Brumpton | N. Rafaels | M. Olesen | J. Lasky-Su | O. Rom | Wei Zhou | Tanmoy Roychowdhury | S. A. Gagliano Taliun | Yuhao Liu | A. H. Skogholt | B. Wolford | William Overton | Ying Zhao | He Zhang | Akua Acheampong | Austen Grooms | Amanda M Schaefer | G. Zajac | L. Villacorta | M. Løset | Vivek Rai | P. Lundegaard | M. Daya | Bertha A Hidalgo | B. Konkle | J. Johnsen | C. Montgomery | S. Nouraie | V. Gordeuk | Ketian Yu | J. LeFaive | D. Taliun | S. Zollner | L. Forer | S. Schoenherr | A. Pandit | S. Weiss | A. Smith | T. Roychowdhury | J. Nielsen | Y. Chen | M. Gabrielsen | J. Lefaive | R. Jackson | A. Smith | S. G. Gagliano Taliun | Anita Pandit | Amanda M. Schaefer | A. Skogholt | K. Taylor | A. Correa | Daniel Taliun | Jennifer A. Smith | K. Taylor | R. Jackson

[1]  L. Zhang,et al.  MiR-126 on mice with coronary artery disease by targeting S1PR2. , 2020, European review for medical and pharmacological sciences.

[2]  Lisa Bastarache,et al.  Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation , 2019, JMIR Medical Informatics.

[3]  M. Schwab,et al.  Nogo-A targeted therapy promotes vascular repair and functional recovery following stroke , 2019, Proceedings of the National Academy of Sciences.

[4]  T. Hankemeier,et al.  Genome-wide association study of plasma lipids , 2019, bioRxiv.

[5]  Wei Zhou,et al.  Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts , 2019, Nature Genetics.

[6]  Brian E. Cade,et al.  Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program , 2019, Nature.

[7]  Xueding Wang,et al.  Nitro-fatty acids protect against steatosis and fibrosis during development of nonalcoholic fatty liver disease in mice , 2019, EBioMedicine.

[8]  L. Goldstein,et al.  Statin Safety and Associated Adverse Events: A Scientific Statement From the American Heart Association , 2019, Arteriosclerosis, thrombosis, and vascular biology.

[9]  Tanya M. Teslovich,et al.  Genetics of Blood Lipids Among ~300,000 Multi-Ethnic Participants of the Million Veteran Program , 2018, Nature Genetics.

[10]  Y. E. Chen,et al.  Brown Adipocyte-Specific PPAR&ggr; (Peroxisome Proliferator-Activated Receptor &ggr;) Deletion Impairs Perivascular Adipose Tissue Development and Enhances Atherosclerosis in Mice , 2018, Arteriosclerosis, thrombosis, and vascular biology.

[11]  Tanya M. Teslovich,et al.  Biobank-driven genomic discovery yields new insight into atrial fibrillation biology , 2018, Nature Genetics.

[12]  Jennifer G. Robinson,et al.  Association Between Baseline LDL-C Level and Total and Cardiovascular Mortality After LDL-C Lowering: A Systematic Review and Meta-analysis , 2018, JAMA.

[13]  M. Kanai,et al.  Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases , 2018, Nature Genetics.

[14]  Y. E. Chen,et al.  Endothelial TFEB (Transcription Factor EB) Positively Regulates Postischemic Angiogenesis , 2018, Circulation research.

[15]  Y. E. Chen,et al.  In situ generation, metabolism and immunomodulatory signaling actions of nitro-conjugated linoleic acid in a murine model of inflammation , 2018, Redox biology.

[16]  Tanya M. Teslovich,et al.  Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. , 2018, American journal of human genetics.

[17]  J. Kane,et al.  Biochemical Analysis of the LPL Truncation Variant, LPL S447X Reveals Increased Lipoprotein Uptake , 2018 .

[18]  Lars G Fritsche,et al.  Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies , 2017, Nature Genetics.

[19]  S. Bertolini,et al.  Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride. , 2017, Journal of Clinical Lipidology.

[20]  Raquel S. Sevilla,et al.  Exome-wide association study of plasma lipids in >300,000 individuals , 2017, Nature Genetics.

[21]  H. Kauczor,et al.  Cardiovascular risk in patients with alpha-1-antitrypsin deficiency , 2017, Respiratory Research.

[22]  S. Neher,et al.  Biochemical Analysis of the Lipoprotein Lipase Truncation Variant, LPLS447X, Reveals Increased Lipoprotein Uptake. , 2017, Biochemistry.

[23]  C. Ramírez,et al.  Genome-wide RNAi screen reveals ALK1 mediates LDL uptake and transcytosis in endothelial cells , 2016, Nature Communications.

[24]  Alan M. Kwong,et al.  Next-generation genotype imputation service and methods , 2016, Nature Genetics.

[25]  K. Behnia,et al.  Beneficial and Adverse Effects of an LXR Agonist on Human Lipid and Lipoprotein Metabolism and Circulating Neutrophils. , 2016, Cell Metabolism.

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

[27]  Mulin Jun Li,et al.  Nature Genetics Advance Online Publication a N a Ly S I S the Support of Human Genetic Evidence for Approved Drug Indications , 2022 .

[28]  P. Elliott,et al.  UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age , 2015, PLoS medicine.

[29]  Bernadette A. Thomas,et al.  Global, regional, and national age–sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013 , 2015, The Lancet.

[30]  Melissa A. Basford,et al.  Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data , 2013, Nature Biotechnology.

[31]  Miles Parkes,et al.  Genetic insights into common pathways and complex relationships among immune-mediated diseases , 2013, Nature Reviews Genetics.

[32]  D. Altshuler,et al.  Validating therapeutic targets through human genetics , 2013, Nature Reviews Drug Discovery.

[33]  K. Hveem,et al.  COHORT PROFILE Cohort Profile : The HUNT Study , Norway , 2013 .

[34]  W. Aird,et al.  Critical role of sphingosine-1-phosphate receptor 2 (S1PR2) in acute vascular inflammation. , 2013, Blood.

[35]  Marc S. Williams,et al.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[36]  Cole Trapnell,et al.  TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions , 2013, Genome Biology.

[37]  J. Gallacher,et al.  C-reactive protein, fibrinogen, and cardiovascular disease prediction. , 2012, The New England journal of medicine.

[38]  Tanya M. Teslovich,et al.  The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits , 2012, PLoS genetics.

[39]  J. Zmuda,et al.  Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density , 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[40]  Christian Gieger,et al.  Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma , 2011, Nature Genetics.

[41]  N. Voelkel,et al.  Alpha-1 antitrypsin inhibits caspase-1 and protects from acute myocardial ischemia-reperfusion injury. , 2011, Journal of molecular and cellular cardiology.

[42]  Ralf Herwig,et al.  ConsensusPathDB: toward a more complete picture of cell biology , 2010, Nucleic Acids Res..

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

[44]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[45]  M. Karimi,et al.  Serum lipid profiles in patients with beta-thalassemia major and intermedia in southern Iran , 2010, Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences.

[46]  H. Kang,et al.  Variance component model to account for sample structure in genome-wide association studies , 2010, Nature Genetics.

[47]  Yasuo Ohashi,et al.  Statins and risk of incident diabetes: a collaborative meta-analysis of randomised statin trials , 2010, The Lancet.

[48]  Aaron R. Quinlan,et al.  BIOINFORMATICS APPLICATIONS NOTE , 2022 .

[49]  Mark D. Robinson,et al.  edgeR: a Bioconductor package for differential expression analysis of digital gene expression data , 2009, Bioinform..

[50]  Edwin K Silverman,et al.  Clinical practice. Alpha1-antitrypsin deficiency. , 2009, New England Journal of Medicine.

[51]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

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

[53]  N. Chalasani,et al.  Glycosylphosphatidylinositol-specific phospholipase d in nonalcoholic Fatty liver disease: a preliminary study. , 2006, The Journal of clinical endocrinology and metabolism.

[54]  J. Menke,et al.  Liver X receptor agonists as potential therapeutic agents for dyslipidemia and atherosclerosis. , 2003, Arteriosclerosis, thrombosis, and vascular biology.

[55]  Scandinavian Simvastatin Survival Study Group Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S) , 1994, The Lancet.

[56]  S. Humphries,et al.  Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia. , 1988, Nucleic acids research.

[57]  Y. Kan,et al.  beta zero thalassemia in Sardinia is caused by a nonsense mutation. , 1981, The Journal of clinical investigation.