当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.

Abstract：

:Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24,551 SNPs for inclusion on the iCOGS custom genotyping array. We performed follow-up genotyping in 18,174 individuals with EOC (cases) and 26,134 controls from 43 studies from the Ovarian Cancer Association Consortium. We validated the two loci at 3q25 and 17q21 that were previously found to have associations close to genome-wide significance and identified three loci newly associated with risk: two loci associated with all EOC subtypes at 8q21 (rs11782652, P = 5.5 × 10(-9)) and 10p12 (rs1243180, P = 1.8 × 10(-8)) and another locus specific to the serous subtype at 17q12 (rs757210, P = 8.1 × 10(-10)). An integrated molecular analysis of genes and regulatory regions at these loci provided evidence for functional mechanisms underlying susceptibility and implicated CHMP4C in the pathogenesis of ovarian cancer.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Pharoah PD,Tsai YY,Ramus SJ,Phelan CM,Goode EL,Lawrenson K,Buckley M,Fridley BL,Tyrer JP,Shen H,Weber R,Karevan R,Larson MC,Song H,Tessier DC,Bacot F,Vincent D,Cunningham JM,Dennis J,Dicks E,Australian Cancer Stud

doi

10.1038/ng.2564

subject

Has Abstract

pub_date

2013-04-01 00:00:00

pages

362-70, 370e1-2

issue

4

eissn

1061-4036

issn

1546-1718

pii

ng.2564

journal_volume

45

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.

    abstract：:Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng901

    authors： Walder RY,Landau D,Meyer P,Shalev H,Tsolia M,Borochowitz Z,Boettger MB,Beck GE,Englehardt RK,Carmi R,Sheffield VC

    更新日期：2002-06-01 00:00:00

  • Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning.

    abstract：:1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, has roles in many biological phenomena such as calcium homeostasis and bone formation, which are thought to be mediated by the 1 alpha,25(OH)2D3 receptor (VDR), a member of the nuclear hormone receptor superfamily. However, the molecular b...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0897-391

    authors： Yoshizawa T,Handa Y,Uematsu Y,Takeda S,Sekine K,Yoshihara Y,Kawakami T,Arioka K,Sato H,Uchiyama Y,Masushige S,Fukamizu A,Matsumoto T,Kato S

    更新日期：1997-08-01 00:00:00

  • An X-to-autosome retrogene is required for spermatogenesis in mice.

    abstract：:We identified the gene carrying the juvenile spermatogonial depletion mutation (jsd), a recessive spermatogenic defect mapped to mouse chromosome 1 (refs. 1,2). We localized jsd to a 272-kb region and resequenced this area to identify the underlying mutation: a frameshift that severely truncates the predicted protein ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1390

    authors： Bradley J,Baltus A,Skaletsky H,Royce-Tolland M,Dewar K,Page DC

    更新日期：2004-08-01 00:00:00

  • Polycomb-mediated methylation on Lys27 of histone H3 pre-marks genes for de novo methylation in cancer.

    abstract：:Many genes associated with CpG islands undergo de novo methylation in cancer. Studies have suggested that the pattern of this modification may be partially determined by an instructive mechanism that recognizes specifically marked regions of the genome. Using chromatin immunoprecipitation analysis, here we show that g...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1950

    authors： Schlesinger Y,Straussman R,Keshet I,Farkash S,Hecht M,Zimmerman J,Eden E,Yakhini Z,Ben-Shushan E,Reubinoff BE,Bergman Y,Simon I,Cedar H

    更新日期：2007-02-01 00:00:00

  • Meristems take their cues from organ primordia.

    abstract：:Stem cell regulation is critical to the development of all multicellular organisms; in plants, stem cell niches reside in meristems. Two newly identified plant genes establish a novel signaling feedback from the incipient leaf primordia back to the meristem that is required to regulate stem cell proliferation. ...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/ng.3601

    authors： Strable J,Scanlon MJ

    更新日期：2016-06-28 00:00:00

  • Mekk3 is essential for early embryonic cardiovascular development.

    abstract：:The early development of blood vessels consists of two phases, vasculogenesis and angiogenesis, which involve distinct and also overlapping molecular regulators, but the intracellular signal transduction pathways involved in these processes have not been well defined. We disrupted Map3k3 (also known as Mekk3), which e...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/73550

    authors： Yang J,Boerm M,McCarty M,Bucana C,Fidler IJ,Zhuang Y,Su B

    更新日期：2000-03-01 00:00:00

  • Foxj1 transcription factors are master regulators of the motile ciliogenic program.

    abstract：:Motile cilia induce fluid movement through their rhythmic beating activity. In mammals, the transcription factor Foxj1 has been implicated in motile cilia formation. Here we show that a zebrafish Foxj1 homolog, foxj1a, is a target of Hedgehog signaling in the floor plate. Loss of Foxj1a compromises the assembly of mot...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.263

    authors： Yu X,Ng CP,Habacher H,Roy S

    更新日期：2008-12-01 00:00:00

  • Modifiers of epigenetic reprogramming show paternal effects in the mouse.

    abstract：:There is increasing evidence that epigenetic information can be inherited across generations in mammals, despite extensive reprogramming both in the gametes and in the early developing embryo. One corollary to this is that disrupting the establishment of epigenetic state in the gametes of a parent, as a result of hete...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng2031

    authors： Chong S,Vickaryous N,Ashe A,Zamudio N,Youngson N,Hemley S,Stopka T,Skoultchi A,Matthews J,Scott HS,de Kretser D,O'Bryan M,Blewitt M,Whitelaw E

    更新日期：2007-05-01 00:00:00

  • Cystatin C inhibits amyloid-beta deposition in Alzheimer's disease mouse models.

    abstract：:Using transgenic mice expressing human cystatin C (encoded by CST3), we show that cystatin C binds soluble amyloid-beta peptide and inhibits cerebral amyloid deposition in amyloid-beta precursor protein (APP) transgenic mice. Cystatin C expression twice that of the endogenous mouse cystatin C was sufficient to substan...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2007.29

    authors： Mi W,Pawlik M,Sastre M,Jung SS,Radvinsky DS,Klein AM,Sommer J,Schmidt SD,Nixon RA,Mathews PM,Levy E

    更新日期：2007-12-01 00:00:00

  • Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias.

    abstract：:The diaphragm is an essential mammalian skeletal muscle, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDHs), a common and often lethal birth defect. The diaphragm is derived from multiple embryonic sources, but how these give rise to the diaphragm is unknown, and, despite the...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3250

    authors： Merrell AJ,Ellis BJ,Fox ZD,Lawson JA,Weiss JA,Kardon G

    更新日期：2015-05-01 00:00:00

  • Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution.

    abstract：:Human endogenous retroviruses (HERVs), which are remnants of past retroviral infections of the germline cells of our ancestors, make up as much as 8% of the human genome and may even outnumber genes. Most HERVs seem to have entered the genome between 10 and 50 million years ago, and they comprise over 200 distinct gro...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng775

    authors： Hughes JF,Coffin JM

    更新日期：2001-12-01 00:00:00

  • Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

    abstract：:Clinical measurements can be viewed as useful intermediate phenotypes to promote understanding of complex human diseases. To acquire comprehensive insights into the underlying genetics, here we conducted a genome-wide association study (GWAS) of 58 quantitative traits in 162,255 Japanese individuals. Overall, we ident...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0047-6

    authors： Kanai M,Akiyama M,Takahashi A,Matoba N,Momozawa Y,Ikeda M,Iwata N,Ikegawa S,Hirata M,Matsuda K,Kubo M,Okada Y,Kamatani Y

    更新日期：2018-03-01 00:00:00

  • Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

    abstract：:The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1927

    authors： Gros-Louis F,Dupré N,Dion P,Fox MA,Laurent S,Verreault S,Sanes JR,Bouchard JP,Rouleau GA

    更新日期：2007-01-01 00:00:00

  • Public resources aid diabetes gene discovery.

    abstract：: ...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/s41588-018-0242-5

    authors： Cousminer DL,Grant SFA

    更新日期：2018-11-01 00:00:00

  • Toward genome-wide SNP genotyping.

    abstract：:Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1558

    authors： Syvänen AC

    更新日期：2005-06-01 00:00:00

  • Reconstitution of human telomerase with the template RNA component hTR and the catalytic protein subunit hTRT.

    abstract：:The maintenance of chromosome termini, or telomeres, requires the action of the enzyme telomerase, as conventional DNA polymerases cannot fully replicate the ends of linear molecules. Telomerase is expressed and telomere length is maintained in human germ cells and the great majority of primary human tumours. However,...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1297-498

    authors： Weinrich SL,Pruzan R,Ma L,Ouellette M,Tesmer VM,Holt SE,Bodnar AG,Lichtsteiner S,Kim NW,Trager JB,Taylor RD,Carlos R,Andrews WH,Wright WE,Shay JW,Harley CB,Morin GB

    更新日期：1997-12-01 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

  • Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA.

    abstract：:Genetic integrity is crucial to normal cell function, and mutations in genes required for DNA replication and repair underlie various forms of genetic instability and disease, including cancer. One structural feature of intact genomes is runs of homopolymeric dC/dG. Here we describe an unusual mutator phenotype in Cae...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng928

    authors： Cheung I,Schertzer M,Rose A,Lansdorp PM

    更新日期：2002-08-01 00:00:00

  • Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

    abstract：:Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants an...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2454

    authors： Lemmers RJ,Tawil R,Petek LM,Balog J,Block GJ,Santen GW,Amell AM,van der Vliet PJ,Almomani R,Straasheijm KR,Krom YD,Klooster R,Sun Y,den Dunnen JT,Helmer Q,Donlin-Smith CM,Padberg GW,van Engelen BG,de Greef JC,Aartsm

    更新日期：2012-12-01 00:00:00

  • Transferability of tag SNPs in genetic association studies in multiple populations.

    abstract：:A general question for linkage disequilibrium-based association studies is how power to detect an association is compromised when tag SNPs are chosen from data in one population sample and then deployed in another sample. Specifically, it is important to know how well tags picked from the HapMap DNA samples capture th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1899

    authors： de Bakker PI,Burtt NP,Graham RR,Guiducci C,Yelensky R,Drake JA,Bersaglieri T,Penney KL,Butler J,Young S,Onofrio RC,Lyon HN,Stram DO,Haiman CA,Freedman ML,Zhu X,Cooper R,Groop L,Kolonel LN,Henderson BE,Daly MJ,Hi

    更新日期：2006-11-01 00:00:00

  • An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers.

    abstract：:Recent studies indicate that a subclass of APOBEC cytidine deaminases, which convert cytosine to uracil during RNA editing and retrovirus or retrotransposon restriction, may induce mutation clusters in human tumors. We show here that throughout cancer genomes APOBEC-mediated mutagenesis is pervasive and correlates wit...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2702

    authors： Roberts SA,Lawrence MS,Klimczak LJ,Grimm SA,Fargo D,Stojanov P,Kiezun A,Kryukov GV,Carter SL,Saksena G,Harris S,Shah RR,Resnick MA,Getz G,Gordenin DA

    更新日期：2013-09-01 00:00:00

  • Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.

    abstract：:The cardiac homeobox protein Nkx2-5 is essential in cardiac development, and mutations in Csx (which encodes Nkx2-5) cause various congenital heart diseases. Using the yeast two-hybrid system with Nkx2-5 as the 'bait', we isolated the T-box-containing transcription factor Tbx5; mutations in TBX5 cause heart and limb m...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/90123

    authors： Hiroi Y,Kudoh S,Monzen K,Ikeda Y,Yazaki Y,Nagai R,Komuro I

    更新日期：2001-07-01 00:00:00

  • Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.

    abstract：:We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association ...

    journal_title：Nature genetics

    pub_type： 信件

    doi：10.1038/ng.421

    authors： Wu X,Ye Y,Kiemeney LA,Sulem P,Rafnar T,Matullo G,Seminara D,Yoshida T,Saeki N,Andrew AS,Dinney CP,Czerniak B,Zhang ZF,Kiltie AE,Bishop DT,Vineis P,Porru S,Buntinx F,Kellen E,Zeegers MP,Kumar R,Rudnai P,Gurzau

    更新日期：2009-09-01 00:00:00

  • The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

    abstract：:We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that i...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng798

    authors： Cuesta A,Pedrola L,Sevilla T,García-Planells J,Chumillas MJ,Mayordomo F,LeGuern E,Marín I,Vílchez JJ,Palau F

    更新日期：2002-01-01 00:00:00

  • Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

    abstract：:Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF. All patients exhibit ac...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1097-190

    authors： Jansen GA,Ofman R,Ferdinandusse S,Ijlst L,Muijsers AO,Skjeldal OH,Stokke O,Jakobs C,Besley GT,Wraith JE,Wanders RJ

    更新日期：1997-10-01 00:00:00

  • Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.

    abstract：:Nearly all cases of fragile X syndrome result from expansion of a CGG trinucleotide repeat found in the 5' untranslated portion of the FMR1 gene. Methylation of the expanded repeats correlates with down-regulation of transcription of FMR1; thus fragile X syndrome is postulated to be due to a loss of function of the FM...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0895-483

    authors： Lugenbeel KA,Peier AM,Carson NL,Chudley AE,Nelson DL

    更新日期：1995-08-01 00:00:00

  • Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors.

    abstract：:Tumor mutational burden correlates with response to immune checkpoint blockade in multiple solid tumors, although in microsatellite-stable tumors this association is of uncertain clinical utility. Here we uniformly analyzed whole-exome sequencing (WES) of 249 tumors and matched normal tissue from patients with clinica...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0200-2

    authors： Miao D,Margolis CA,Vokes NI,Liu D,Taylor-Weiner A,Wankowicz SM,Adeegbe D,Keliher D,Schilling B,Tracy A,Manos M,Chau NG,Hanna GJ,Polak P,Rodig SJ,Signoretti S,Sholl LM,Engelman JA,Getz G,Jänne PA,Haddad RI,Chouei

    更新日期：2018-09-01 00:00:00

  • Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs.

    abstract：:Schizophrenia is a complex disorder caused by both genetic and environmental factors. Using 9,087 affected individuals, 12,171 controls and 915,354 imputed SNPs from the Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC-SCZ), we estimate that 23% (s.e. = 1%) of variation in liability to sc...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.1108

    authors： Lee SH,DeCandia TR,Ripke S,Yang J,Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ).,International Schizophrenia Consortium (ISC).,Molecular Genetics of Schizophrenia Collaboration (MGS).,Sullivan PF,Goddard ME

    更新日期：2012-02-19 00:00:00

  • Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.

    abstract：:All molybdoenzymes other than nitrogenase require molybdopterin as a metal-binding cofactor. Several genes necessary for the synthesis of the molybdenum cofactor (MoCo) have been characterized in bacteria and plants. The proteins encoded by the Escherichia coli genes moaA and moaC catalyse the first steps in MoCo synt...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/1706

    authors： Reiss J,Cohen N,Dorche C,Mandel H,Mendel RR,Stallmeyer B,Zabot MT,Dierks T

    更新日期：1998-09-01 00:00:00

  • Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

    abstract：:We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P<5×10(-8)), increasing the number of known susceptibility loci to 25. The most assoc...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2395

    authors： Liu JZ,Almarri MA,Gaffney DJ,Mells GF,Jostins L,Cordell HJ,Ducker SJ,Day DB,Heneghan MA,Neuberger JM,Donaldson PT,Bathgate AJ,Burroughs A,Davies MH,Jones DE,Alexander GJ,Barrett JC,Sandford RN,Anderson CA,UK Primary

    更新日期：2012-10-01 00:00:00