当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.

Abstract：

:To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = 7 x 10(-15)) were robustly associated with birth weight. Correlated SNPs in ADCY5 were recently implicated in regulation of glucose levels and susceptibility to type 2 diabetes, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes has a genetic component, distinct from the proposed role of programming by maternal nutrition. Using data from both SNPs, we found that the 9% of Europeans carrying four birth weight-lowering alleles were, on average, 113 g (95% CI 89-137 g) lighter at birth than the 24% with zero or one alleles (P(trend) = 7 x 10(-30)). The impact on birth weight is similar to that of a mother smoking 4-5 cigarettes per day in the third trimester of pregnancy.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Freathy RM,Mook-Kanamori DO,Sovio U,Prokopenko I,Timpson NJ,Berry DJ,Warrington NM,Widen E,Hottenga JJ,Kaakinen M,Lange LA,Bradfield JP,Kerkhof M,Marsh JA,Mägi R,Chen CM,Lyon HN,Kirin M,Adair LS,Aulchenko YS,Benne

doi

10.1038/ng.567

subject

Has Abstract

pub_date

2010-05-01 00:00:00

pages

430-5

issue

5

eissn

1061-4036

issn

1546-1718

pii

ng.567

journal_volume

42

pub_type

杂志文章,meta分析

相关文献

NATURE GENETICS文献大全
  • Three-dimensional chromatin landscapes in T cell acute lymphoblastic leukemia.

    abstract：:Differences in three-dimensional (3D) chromatin architecture can influence the integrity of topologically associating domains (TADs) and rewire specific enhancer-promoter interactions, impacting gene expression and leading to human disease. Here we investigate the 3D chromatin architecture in T cell acute lymphoblasti...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-020-0602-9

    authors： Kloetgen A,Thandapani P,Ntziachristos P,Ghebrechristos Y,Nomikou S,Lazaris C,Chen X,Hu H,Bakogianni S,Wang J,Fu Y,Boccalatte F,Zhong H,Paietta E,Trimarchi T,Zhu Y,Van Vlierberghe P,Inghirami GG,Lionnet T,Aifantis I

    更新日期：2020-04-01 00:00:00

  • Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

    abstract：:Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0994-98

    authors： Reardon W,Winter RM,Rutland P,Pulleyn LJ,Jones BM,Malcolm S

    更新日期：1994-09-01 00:00:00

  • DNA methylome analysis in Burkitt and follicular lymphomas identifies differentially methylated regions linked to somatic mutation and transcriptional control.

    abstract：:Although Burkitt lymphomas and follicular lymphomas both have features of germinal center B cells, they are biologically and clinically quite distinct. Here we performed whole-genome bisulfite, genome and transcriptome sequencing in 13 IG-MYC translocation-positive Burkitt lymphoma, nine BCL2 translocation-positive fo...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3413

    authors： Kretzmer H,Bernhart SH,Wang W,Haake A,Weniger MA,Bergmann AK,Betts MJ,Carrillo-de-Santa-Pau E,Doose G,Gutwein J,Richter J,Hovestadt V,Huang B,Rico D,Jühling F,Kolarova J,Lu Q,Otto C,Wagener R,Arnolds J,Burkhardt B

    更新日期：2015-11-01 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

  • A mouse model of human L1 retrotransposition.

    abstract：:The L1 retrotransposon has had an immense impact on the size and structure of the human genome through a variety of mechanisms, including insertional mutagenesis. To study retrotransposition in a living organism, we created a mouse model of human L1 retrotransposition. Here we show that L1 elements can retrotranspose ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1022

    authors： Ostertag EM,DeBerardinis RJ,Goodier JL,Zhang Y,Yang N,Gerton GL,Kazazian HH Jr

    更新日期：2002-12-01 00:00:00

  • Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

    abstract：:Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. To date, two autosomal dominant forms have been recognized: LGMD1A, linked to chromosome 5q, and LGMD1B, associated with cardiac defects and linked to chromosome 1q...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0498-365

    authors： Minetti C,Sotgia F,Bruno C,Scartezzini P,Broda P,Bado M,Masetti E,Mazzocco M,Egeo A,Donati MA,Volonte D,Galbiati F,Cordone G,Bricarelli FD,Lisanti MP,Zara F

    更新日期：1998-04-01 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

  • 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

  • Quantifying influenza virus diversity and transmission in humans.

    abstract：:Influenza A virus is characterized by high genetic diversity. However, most of what is known about influenza evolution has come from consensus sequences sampled at the epidemiological scale that only represent the dominant virus lineage within each infected host. Less is known about the extent of within-host virus div...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3479

    authors： Poon LL,Song T,Rosenfeld R,Lin X,Rogers MB,Zhou B,Sebra R,Halpin RA,Guan Y,Twaddle A,DePasse JV,Stockwell TB,Wentworth DE,Holmes EC,Greenbaum B,Peiris JS,Cowling BJ,Ghedin E

    更新日期：2016-02-01 00:00:00

  • Molecular breeding of viruses.

    abstract：:Genetic recombination is a major force driving the evolution of many viruses. Recombination between two copackaged retroviral genomes may occur at rates as high as 40% per replication cycle. This enables genetic information to be shuffled rapidly, leading to recombinants with new patterns of mutations and phenotypes. ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/78132

    authors： Soong NW,Nomura L,Pekrun K,Reed M,Sheppard L,Dawes G,Stemmer WP

    更新日期：2000-08-01 00:00:00

  • Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

    abstract：:We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associate...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.784

    authors： Schunkert H,König IR,Kathiresan S,Reilly MP,Assimes TL,Holm H,Preuss M,Stewart AF,Barbalic M,Gieger C,Absher D,Aherrahrou Z,Allayee H,Altshuler D,Anand SS,Andersen K,Anderson JL,Ardissino D,Ball SG,Balmforth AJ,Ba

    更新日期：2011-03-06 00:00:00

  • Extensive allelic variation and ultrashort telomeres in senescent human cells.

    abstract：:By imposing a limit on the proliferative lifespan of most somatic cells, telomere erosion represents an innate mechanism for tumor suppression and may contribute to age-related disease. A detailed understanding of the pathways that link shortened telomeres to replicative senescence has been severely hindered by the in...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1084

    authors： Baird DM,Rowson J,Wynford-Thomas D,Kipling D

    更新日期：2003-02-01 00:00:00

  • Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

    abstract：:Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele caus...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1226

    authors： Noben-Trauth K,Zheng QY,Johnson KR

    更新日期：2003-09-01 00:00:00

  • Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.

    abstract：:The genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new method using polygenic risk-score analyses to infer the total liability-scale variance explained by as...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2232

    authors： Stahl EA,Wegmann D,Trynka G,Gutierrez-Achury J,Do R,Voight BF,Kraft P,Chen R,Kallberg HJ,Kurreeman FA,Diabetes Genetics Replication and Meta-analysis Consortium.,Myocardial Infarction Genetics Consortium.,Kathiresan S,Wijmenga

    更新日期：2012-03-25 00:00:00

  • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

    abstract：:We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication show...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1718

    authors： Rovelet-Lecrux A,Hannequin D,Raux G,Le Meur N,Laquerrière A,Vital A,Dumanchin C,Feuillette S,Brice A,Vercelletto M,Dubas F,Frebourg T,Campion D

    更新日期：2006-01-01 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

  • Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.

    abstract：:We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.386

    authors： Perry JR,Stolk L,Franceschini N,Lunetta KL,Zhai G,McArdle PF,Smith AV,Aspelund T,Bandinelli S,Boerwinkle E,Cherkas L,Eiriksdottir G,Estrada K,Ferrucci L,Folsom AR,Garcia M,Gudnason V,Hofman A,Karasik D,Kiel DP,Lau

    更新日期：2009-06-01 00:00:00

  • Cryptorchidism in mice mutant for Insl3.

    abstract：:Impaired testicular descent (cryptorchidism) is one of the most frequent congenital abnormalities in humans, involving 2% of male births. Cryptorchidism can result in infertility and increases risk for development of germ-cell tumours. Testicular descent from abdomen to scrotum occurs in two distinct phases: the trans...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/10364

    authors： Nef S,Parada LF

    更新日期：1999-07-01 00:00:00

  • Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

    abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    journal_title：Nature genetics

    pub_type： 已发布勘误

    doi：10.1038/s41588-019-0449-0

    authors： Malik R,Chauhan G,Traylor M,Sargurupremraj M,Okada Y,Mishra A,Rutten-Jacobs L,Giese AK,van der Laan SW,Gretarsdottir S,Anderson CD,Chong M,Adams HHH,Ago T,Almgren P,Amouyel P,Ay H,Bartz TM,Benavente OR,Bevan S,Bon

    更新日期：2019-07-01 00:00:00

  • The fecal metabolome as a functional readout of the gut microbiome.

    abstract：:The human gut microbiome plays a key role in human health 1 , but 16S characterization lacks quantitative functional annotation 2 . The fecal metabolome provides a functional readout of microbial activity and can be used as an intermediate phenotype mediating host-microbiome interactions 3 . In this comprehensive desc...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0135-7

    authors： Zierer J,Jackson MA,Kastenmüller G,Mangino M,Long T,Telenti A,Mohney RP,Small KS,Bell JT,Steves CJ,Valdes AM,Spector TD,Menni C

    更新日期：2018-06-01 00:00:00

  • Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.

    abstract：:Mutation of the gene PARK2, which encodes an E3 ubiquitin ligase, is the most common cause of early-onset Parkinson's disease. In a search for multisite tumor suppressors, we identified PARK2 as a frequently targeted gene on chromosome 6q25.2-q27 in cancer. Here we describe inactivating somatic mutations and frequent ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.491

    authors： Veeriah S,Taylor BS,Meng S,Fang F,Yilmaz E,Vivanco I,Janakiraman M,Schultz N,Hanrahan AJ,Pao W,Ladanyi M,Sander C,Heguy A,Holland EC,Paty PB,Mischel PS,Liau L,Cloughesy TF,Mellinghoff IK,Solit DB,Chan TA

    更新日期：2010-01-01 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

  • Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

    abstract：:Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities. Most patients die in childhood. The CHS hallmark is the occurrence of giant i...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1196-307

    authors： Nagle DL,Karim MA,Woolf EA,Holmgren L,Bork P,Misumi DJ,McGrail SH,Dussault BJ Jr,Perou CM,Boissy RE,Duyk GM,Spritz RA,Moore KJ

    更新日期：1996-11-01 00:00:00

  • HOXB13, RFX6 and prostate cancer risk.

    abstract：:A new study shows that HOXB13 is preferentially recruited to the risk allele of a prostate cancer-associated SNP, enhancing the expression of RFX6, a driver of prostate cancer cell migration and predictor of disease progression. The work illustrates how a single risk locus contributes both to prostate cancer incidence...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/ng.2881

    authors： Mills IG

    更新日期：2014-02-01 00:00:00

  • Nalp1b controls mouse macrophage susceptibility to anthrax lethal toxin.

    abstract：:The pathogenesis of Bacillus anthracis, the bacterium that causes anthrax, depends on secretion of three factors that combine to form two bipartite toxins. Edema toxin, consisting of protective antigen (PA) and edema factor (EF), causes the edema associated with cutaneous anthrax infections, whereas lethal toxin (LeTx...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1724

    authors： Boyden ED,Dietrich WF

    更新日期：2006-02-01 00:00:00

  • Contrasting evolutionary genome dynamics between domesticated and wild yeasts.

    abstract：:Structural rearrangements have long been recognized as an important source of genetic variation, with implications in phenotypic diversity and disease, yet their detailed evolutionary dynamics remain elusive. Here we use long-read sequencing to generate end-to-end genome assemblies for 12 strains representing major su...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3847

    authors： Yue JX,Li J,Aigrain L,Hallin J,Persson K,Oliver K,Bergström A,Coupland P,Warringer J,Lagomarsino MC,Fischer G,Durbin R,Liti G

    更新日期：2017-06-01 00:00:00

  • Promoter bivalency favors an open chromatin architecture in embryonic stem cells.

    abstract：:In embryonic stem cells (ESCs), developmental gene promoters are characterized by their bivalent chromatin state, with simultaneous modification by MLL2 and Polycomb complexes. Although essential for embryogenesis, bivalency is functionally not well understood. Here, we show that MLL2 plays a central role in ESC genom...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0218-5

    authors： Mas G,Blanco E,Ballaré C,Sansó M,Spill YG,Hu D,Aoi Y,Le Dily F,Shilatifard A,Marti-Renom MA,Di Croce L

    更新日期：2018-10-01 00:00:00

  • Enabling transparent and collaborative computational analysis of 12 tumor types within The Cancer Genome Atlas.

    abstract：:The Cancer Genome Atlas Pan-Cancer Analysis Working Group collaborated on the Synapse software platform to share and evolve data, results and methodologies while performing integrative analysis of molecular profiling data from 12 tumor types. The group's work serves as a pilot case study that provides (i) a template f...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2761

    authors： Omberg L,Ellrott K,Yuan Y,Kandoth C,Wong C,Kellen MR,Friend SH,Stuart J,Liang H,Margolin AA

    更新日期：2013-10-01 00:00:00

  • Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood.

    abstract：:Size at birth is an important determinant of perinatal survival and has also been associated with the risk for cardiovascular disease and type 2 diabetes in adult life. Common genetic variation that regulates fetal growth could therefore influence perinatal survival and predispose to the development of adult disease. ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0598-98

    authors： Dunger DB,Ong KK,Huxtable SJ,Sherriff A,Woods KA,Ahmed ML,Golding J,Pembrey ME,Ring S,Bennett ST,Todd JA

    更新日期：1998-05-01 00:00:00

  • Selection for short introns in highly expressed genes.

    abstract：:Transcription is a slow and expensive process: in eukaryotes, approximately 20 nucleotides can be transcribed per second at the expense of at least two ATP molecules per nucleotide. Thus, at least for highly expressed genes, transcription of long introns, which are particularly common in mammals, is costly. Using data...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng940

    authors： Castillo-Davis CI,Mekhedov SL,Hartl DL,Koonin EV,Kondrashov FA

    更新日期：2002-08-01 00:00:00