当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction.

Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction.

Abstract：

:Sudden cardiac death from ventricular fibrillation during acute myocardial infarction is a leading cause of total and cardiovascular mortality. To our knowledge, we here report the first genome-wide association study for this trait, conducted in a set of 972 individuals with a first acute myocardial infarction, 515 of whom had ventricular fibrillation and 457 of whom did not, from the Arrhythmia Genetics in The Netherlands (AGNES) study. The most significant association to ventricular fibrillation was found at 21q21 (rs2824292, odds ratio = 1.78, 95% CI 1.47-2.13, P = 3.3 x 10(-10)). The association of rs2824292 with ventricular fibrillation was replicated in an independent case-control set consisting of 146 out-of-hospital cardiac arrest individuals with myocardial infarction complicated by ventricular fibrillation and 391 individuals who survived a myocardial infarction (controls) (odds ratio = 1.49, 95% CI 1.14-1.95, P = 0.004). The closest gene to this SNP is CXADR, which encodes a viral receptor previously implicated in myocarditis and dilated cardiomyopathy and which has recently been identified as a modulator of cardiac conduction. This locus has not previously been implicated in arrhythmia susceptibility.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Bezzina CR,Pazoki R,Bardai A,Marsman RF,de Jong JSSG,Blom MT,Scicluna BP,Jukema JW,Bindraban NR,Lichtner P,Pfeufer A,Bishopric NH,Roden DM,Meitinger T,Chugh SS,Myerburg RJ,Jouven X,Kääb S,Dekker LRC,Tan HL,Tanck M

doi

10.1038/ng.623

subject

Has Abstract

pub_date

2010-08-01 00:00:00

pages

688-691

issue

8

eissn

1061-4036

issn

1546-1718

journal_volume

42

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Pleiotropic fitness effects of the Tre1-Gr5a region in Drosophila melanogaster.

    abstract：:The abundance of transposable elements and DNA repeat sequences in mammalian genomes raises the question of whether such insertions represent passive evolutionary baggage or may influence the expression of complex traits. We addressed this question in Drosophila melanogaster, in which the effects of single transposabl...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1823

    authors： Rollmann SM,Magwire MM,Morgan TJ,Ozsoy ED,Yamamoto A,Mackay TF,Anholt RR

    更新日期：2006-07-01 00:00:00

  • The transcriptomic landscape and directed chemical interrogation of MLL-rearranged acute myeloid leukemias.

    abstract：:Using next-generation sequencing of primary acute myeloid leukemia (AML) specimens, we identified to our knowledge the first unifying genetic network common to the two subgroups of KMT2A (MLL)-rearranged leukemia, namely having MLL fusions or partial tandem duplications. Within this network, we experimentally confirme...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3371

    authors： Lavallée VP,Baccelli I,Krosl J,Wilhelm B,Barabé F,Gendron P,Boucher G,Lemieux S,Marinier A,Meloche S,Hébert J,Sauvageau G

    更新日期：2015-09-01 00:00:00

  • Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

    abstract：:Human cyclic haematopoiesis (cyclic neutropenia, MIM 162800) is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk fo...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/70544

    authors： Horwitz M,Benson KF,Person RE,Aprikyan AG,Dale DC

    更新日期：1999-12-01 00:00:00

  • Evolutionary history and global spread of the Mycobacterium tuberculosis Beijing lineage.

    abstract：:Mycobacterium tuberculosis strains of the Beijing lineage are globally distributed and are associated with the massive spread of multidrug-resistant (MDR) tuberculosis in Eurasia. Here we reconstructed the biogeographical structure and evolutionary history of this lineage by genetic analysis of 4,987 isolates from 99 ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3195

    authors： Merker M,Blin C,Mona S,Duforet-Frebourg N,Lecher S,Willery E,Blum MG,Rüsch-Gerdes S,Mokrousov I,Aleksic E,Allix-Béguec C,Antierens A,Augustynowicz-Kopeć E,Ballif M,Barletta F,Beck HP,Barry CE 3rd,Bonnet M,Borroni E,

    更新日期：2015-03-01 00:00:00

  • A map of constrained coding regions in the human genome.

    abstract：:Deep catalogs of genetic variation from thousands of humans enable the detection of intraspecies constraint by identifying coding regions with a scarcity of variation. While existing techniques summarize constraint for entire genes, single gene-wide metrics conceal regional constraint variability within each gene. The...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0294-6

    authors： Havrilla JM,Pedersen BS,Layer RM,Quinlan AR

    更新日期：2019-01-01 00:00:00

  • The glial cells missing-1 protein is essential for branching morphogenesis in the chorioallantoic placenta.

    abstract：:Trophoblast cells of the placenta are established at the blastocyst stage and differentiate into specialized subtypes after implantation. In mice, the outer layer of the placenta consists of trophoblast giant cells that invade the uterus and promote maternal blood flow to the implantation site by producing cytokines w...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/77076

    authors： Anson-Cartwright L,Dawson K,Holmyard D,Fisher SJ,Lazzarini RA,Cross JC

    更新日期：2000-07-01 00:00:00

  • Minimum information about a microarray experiment (MIAME)-toward standards for microarray data.

    abstract：:Microarray analysis has become a widely used tool for the generation of gene expression data on a genomic scale. Although many significant results have been derived from microarray studies, one limitation has been the lack of standards for presenting and exchanging such data. Here we present a proposal, the Minimum In...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1201-365

    authors： Brazma A,Hingamp P,Quackenbush J,Sherlock G,Spellman P,Stoeckert C,Aach J,Ansorge W,Ball CA,Causton HC,Gaasterland T,Glenisson P,Holstege FC,Kim IF,Markowitz V,Matese JC,Parkinson H,Robinson A,Sarkans U,Schulze-Krem

    更新日期：2001-12-01 00:00:00

  • The Collaborative Cross, a community resource for the genetic analysis of complex traits.

    abstract：:The goal of the Complex Trait Consortium is to promote the development of resources that can be used to understand, treat and ultimately prevent pervasive human diseases. Existing and proposed mouse resources that are optimized to study the actions of isolated genetic loci on a fixed background are less effective for ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1104-1133

    authors： Churchill GA,Airey DC,Allayee H,Angel JM,Attie AD,Beatty J,Beavis WD,Belknap JK,Bennett B,Berrettini W,Bleich A,Bogue M,Broman KW,Buck KJ,Buckler E,Burmeister M,Chesler EJ,Cheverud JM,Clapcote S,Cook MN,Cox RD,C

    更新日期：2004-11-01 00:00:00

  • Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity.

    abstract：:Cells respond to stimuli by changes in various processes, including signaling pathways and gene expression. Efforts to identify components of these responses increasingly depend on mRNA profiling and genetic library screens. By comparing the results of these two assays across various stimuli, we found that genetic scr...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.337

    authors： Yeger-Lotem E,Riva L,Su LJ,Gitler AD,Cashikar AG,King OD,Auluck PK,Geddie ML,Valastyan JS,Karger DR,Lindquist S,Fraenkel E

    更新日期：2009-03-01 00:00:00

  • Another piece of the autism puzzle.

    abstract：:A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability. ...

    journal_title：Nature genetics

    pub_type： 评论,新闻

    doi：10.1038/ng0610-478

    authors： State MW

    更新日期：2010-06-01 00:00:00

  • Genetic variation of a bacterial pathogen within individuals with cystic fibrosis provides a record of selective pressures.

    abstract：:Advances in sequencing technologies have enabled the identification of mutations acquired by bacterial pathogens during infection. However, it remains unclear whether adaptive mutations fix in the population or lead to pathogen diversification within the patient. Here we study the genotypic diversity of Burkholderia d...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2848

    authors： Lieberman TD,Flett KB,Yelin I,Martin TR,McAdam AJ,Priebe GP,Kishony R

    更新日期：2014-01-01 00:00:00

  • Intracontinental spread of human invasive Salmonella Typhimurium pathovariants in sub-Saharan Africa.

    abstract：:A highly invasive form of non-typhoidal Salmonella (iNTS) disease has recently been documented in many countries in sub-Saharan Africa. The most common Salmonella enterica serovar causing this disease is Typhimurium (Salmonella Typhimurium). We applied whole-genome sequence-based phylogenetic methods to define the pop...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2423

    authors： Okoro CK,Kingsley RA,Connor TR,Harris SR,Parry CM,Al-Mashhadani MN,Kariuki S,Msefula CL,Gordon MA,de Pinna E,Wain J,Heyderman RS,Obaro S,Alonso PL,Mandomando I,MacLennan CA,Tapia MD,Levine MM,Tennant SM,Parkhill J,

    更新日期：2012-11-01 00:00:00

  • The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

    abstract：:Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains the strongest single predictor of breast cancer risk, attention has focused on the role of highly penetrant, dominantly inherited genes in cancer-prone kindreds (1). BRCA1 was localized to chromosome 17 th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0396-333

    authors： Tavtigian SV,Simard J,Rommens J,Couch F,Shattuck-Eidens D,Neuhausen S,Merajver S,Thorlacius S,Offit K,Stoppa-Lyonnet D,Belanger C,Bell R,Berry S,Bogden R,Chen Q,Davis T,Dumont M,Frye C,Hattier T,Jammulapati S,Jane

    更新日期：1996-03-01 00:00:00

  • CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

    abstract：:Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have stud...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/15496

    authors： Marcelino J,Carpten JD,Suwairi WM,Gutierrez OM,Schwartz S,Robbins C,Sood R,Makalowska I,Baxevanis A,Johnstone B,Laxer RM,Zemel L,Kim CA,Herd JK,Ihle J,Williams C,Johnson M,Raman V,Alonso LG,Brunoni D,Gerstein A,

    更新日期：1999-11-01 00:00:00

  • A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.

    abstract：:White sponge nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as white 'spongy' plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa. Histologica...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1295-450

    authors： Rugg EL,McLean WH,Allison WE,Lunny DP,Macleod RI,Felix DH,Lane EB,Munro CS

    更新日期：1995-12-01 00:00:00

  • Epigenetic asymmetry of imprinted genes in plant gametes.

    abstract：:Plant imprinted genes show parent-of-origin expression in seed endosperm, but little is known about the nature of parental imprints in gametes before fertilization. We show here that single differentially methylated regions (DMRs) correlate with allele-specific expression of two maternally expressed genes in the seed ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1828

    authors： Gutiérrez-Marcos JF,Costa LM,Dal Prà M,Scholten S,Kranz E,Perez P,Dickinson HG

    更新日期：2006-08-01 00:00:00

  • Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

    abstract：:Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms. With few exceptions, patients follow a homogen...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/2470

    authors： Minassian BA,Lee JR,Herbrick JA,Huizenga J,Soder S,Mungall AJ,Dunham I,Gardner R,Fong CY,Carpenter S,Jardim L,Satishchandra P,Andermann E,Snead OC 3rd,Lopes-Cendes I,Tsui LC,Delgado-Escueta AV,Rouleau GA,Scherer SW

    更新日期：1998-10-01 00:00:00

  • A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

    abstract：:Patients with a combined immunodeficiency characterized by normal numbers but impaired function of T and B cells had a homozygous p.Tyr20His substitution in transferrin receptor 1 (TfR1), encoded by TFRC. The substitution disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis and markedly...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3465

    authors： Jabara HH,Boyden SE,Chou J,Ramesh N,Massaad MJ,Benson H,Bainter W,Fraulino D,Rahimov F,Sieff C,Liu ZJ,Alshemmari SH,Al-Ramadi BK,Al-Dhekri H,Arnaout R,Abu-Shukair M,Vatsayan A,Silver E,Ahuja S,Davies EG,Sola-Visne

    更新日期：2016-01-01 00:00:00

  • Early specification of limb muscle precursor cells by the homeobox gene Lbx1h.

    abstract：:During vertebrate embryogenesis, myogenic precursor cells of limb muscles delaminate from the ventro-lateral edge of the somitic dermomyotome and migrate to the limb buds, where they congregate into dorsal and ventral muscle masses. It has been proposed that the surrounding connective tissue controls muscle pattern fo...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/13843

    authors： Schäfer K,Braun T

    更新日期：1999-10-01 00:00:00

  • Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.

    abstract：:Massively parallel sequencing technologies have identified a broad spectrum of human genome diversity. Here we deep sequenced and correlated 18 genomes and 17 transcriptomes of unrelated Korean individuals. This has allowed us to construct a genome-wide map of common and rare variants and also identify variants formed...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.872

    authors： Ju YS,Kim JI,Kim S,Hong D,Park H,Shin JY,Lee S,Lee WC,Kim S,Yu SB,Park SS,Seo SH,Yun JY,Kim HJ,Lee DS,Yavartanoo M,Kang HP,Gokcumen O,Govindaraju DR,Jung JH,Chong H,Yang KS,Kim H,Lee C,Seo JS

    更新日期：2011-07-03 00:00:00

  • Identification of erythroferrone as an erythroid regulator of iron metabolism.

    abstract：:Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores. We identified a new hormone, erythroferrone (ERFE), that mediates hepcidin suppres...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2996

    authors： Kautz L,Jung G,Valore EV,Rivella S,Nemeth E,Ganz T

    更新日期：2014-07-01 00:00:00

  • Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

    abstract：:Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, whi...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.2635

    authors： Ruark E,Seal S,McDonald H,Zhang F,Elliot A,Lau K,Perdeaux E,Rapley E,Eeles R,Peto J,Kote-Jarai Z,Muir K,Nsengimana J,Shipley J,UK Testicular Cancer Collaboration (UKTCC).,Bishop DT,Stratton MR,Easton DF,Huddart RA,R

    更新日期：2013-06-01 00:00:00

  • Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

    abstract：:Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an impaired ability to incorporate alpha-tocopherol into lipoproteins secreted by the liver, a function putatively attributable to the alpha-tocopherol transfer protein...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0295-141

    authors： Ouahchi K,Arita M,Kayden H,Hentati F,Ben Hamida M,Sokol R,Arai H,Inoue K,Mandel JL,Koenig M

    更新日期：1995-02-01 00:00:00

  • Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

    abstract：:Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) i...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/90050

    authors： Betz RC,Schoser BG,Kasper D,Ricker K,Ramírez A,Stein V,Torbergsen T,Lee YA,Nöthen MM,Wienker TF,Malin JP,Propping P,Reis A,Mortier W,Jentsch TJ,Vorgerd M,Kubisch C

    更新日期：2001-07-01 00:00:00

  • Choose your target.

    abstract：:The technology of modifying endogenous genes has recently been extended from mice to Drosophila and sheep. Concurrently, genomic sequencing is uncovering thousands of previously uncharacterized genes. Armed with today's technologies, what are our best options for delineating the functions of these new genes? ...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/82825

    authors： Capecchi MR

    更新日期：2000-10-01 00:00:00

  • An evolutionary framework for measuring epigenomic information and estimating cell-type-specific fitness consequences.

    abstract：:Here we ask the question "How much information do epigenomic datasets provide about human genomic function?" We consider nine epigenomic features across 115 cell types and measure information about function as a reduction in entropy under a probabilistic evolutionary model fitted to human and nonhuman primate genomes....

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0300-z

    authors： Gulko B,Siepel A

    更新日期：2019-02-01 00:00:00

  • Recombination and linkage disequilibrium in Arabidopsis thaliana.

    abstract：:Linkage disequilibrium (LD) is a major aspect of the organization of genetic variation in natural populations. Here we describe the genome-wide pattern of LD in a sample of 19 Arabidopsis thaliana accessions using 341,602 non-singleton SNPs. LD decays within 10 kb on average, considerably faster than previously estima...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng2115

    authors： Kim S,Plagnol V,Hu TT,Toomajian C,Clark RM,Ossowski S,Ecker JR,Weigel D,Nordborg M

    更新日期：2007-09-01 00:00:00

  • Quantitative genome-wide enhancer activity maps for five Drosophila species show functional enhancer conservation and turnover during cis-regulatory evolution.

    abstract：:Phenotypic differences between closely related species are thought to arise primarily from changes in gene expression due to mutations in cis-regulatory sequences (enhancers). However, it has remained unclear how frequently mutations alter enhancer activity or create functional enhancers de novo. Here we use STARR-seq...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3009

    authors： Arnold CD,Gerlach D,Spies D,Matts JA,Sytnikova YA,Pagani M,Lau NC,Stark A

    更新日期：2014-07-01 00:00:00

  • DNA methylation loss in late-replicating domains is linked to mitotic cell division.

    abstract：:DNA methylation loss occurs frequently in cancer genomes, primarily within lamina-associated, late-replicating regions termed partially methylated domains (PMDs). We profiled 39 diverse primary tumors and 8 matched adjacent tissues using whole-genome bisulfite sequencing (WGBS) and analyzed them alongside 343 addition...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0073-4

    authors： Zhou W,Dinh HQ,Ramjan Z,Weisenberger DJ,Nicolet CM,Shen H,Laird PW,Berman BP

    更新日期：2018-04-01 00:00:00

  • A role for the bacterial GATC methylome in antibiotic stress survival.

    abstract：:Antibiotic resistance is an increasingly serious public health threat. Understanding pathways allowing bacteria to survive antibiotic stress may unveil new therapeutic targets. We explore the role of the bacterial epigenome in antibiotic stress survival using classical genetic tools and single-molecule real-time seque...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3530

    authors： Cohen NR,Ross CA,Jain S,Shapiro RS,Gutierrez A,Belenky P,Li H,Collins JJ

    更新日期：2016-05-01 00:00:00