当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

Abstract：

:Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 (rs12700667) for 'all' endometriosis (P = 2.6 × 10⁻⁷, odds ratio (OR) = 1.22, 95% CI 1.13-1.32) and for moderate to severe disease (P = 1.5 × 10⁻⁹, OR = 1.38, 95% CI 1.24-1.53). We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (P = 1.2 × 10⁻³, OR = 1.17, 95% CI 1.06-1.28), resulting in a genome-wide significant P value of 1.4 × 10⁻⁹ (OR = 1.20, 95% CI 1.13-1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes NFE2L3 and HOXA10.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Painter JN,Anderson CA,Nyholt DR,Macgregor S,Lin J,Lee SH,Lambert A,Zhao ZZ,Roseman F,Guo Q,Gordon SD,Wallace L,Henders AK,Visscher PM,Kraft P,Martin NG,Morris AP,Treloar SA,Kennedy SH,Missmer SA,Montgomery GW,Z

doi

10.1038/ng.731

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

51-4

issue

1

eissn

1061-4036

issn

1546-1718

pii

ng.731

journal_volume

43

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

    abstract：:Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Electromyographic investigations reveal repetitive m...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/82638

    authors： Nicole S,Davoine CS,Topaloglu H,Cattolico L,Barral D,Beighton P,Hamida CB,Hammouda H,Cruaud C,White PS,Samson D,Urtizberea JA,Lehmann-Horn F,Weissenbach J,Hentati F,Fontaine B

    更新日期：2000-12-01 00:00:00

  • Apolipoprotein E allele-specific antioxidant activity and effects on cytotoxicity by oxidative insults and beta-amyloid peptides.

    abstract：:The apolipoprotein E (APOE) E4 allele is associated with Alzheimer's disease, cardiovascular disease, and decreased longevity. To probe the mechanism of these associations, cell lines were created which secrete each apoE isoform. ApoE conditioned media, purified apoE, and commercially obtained apoE protected B12 cells...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0996-55

    authors： Miyata M,Smith JD

    更新日期：1996-09-01 00:00:00

  • Vitamin C modulates TET1 function during somatic cell reprogramming.

    abstract：:Vitamin C, a micronutrient known for its anti-scurvy activity in humans, promotes the generation of induced pluripotent stem cells (iPSCs) through the activity of histone demethylating dioxygenases. TET hydroxylases are also dioxygenases implicated in active DNA demethylation. Here we report that TET1 either positivel...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2807

    authors： Chen J,Guo L,Zhang L,Wu H,Yang J,Liu H,Wang X,Hu X,Gu T,Zhou Z,Liu J,Liu J,Wu H,Mao SQ,Mo K,Li Y,Lai K,Qi J,Yao H,Pan G,Xu GL,Pei D

    更新日期：2013-12-01 00:00:00

  • Resequencing and mutational analysis using oligonucleotide microarrays.

    abstract：:Oligonucleotide microarray (DNA chip)-based hybridization analysis is a promising new technology which potentially allows rapid and cost-effective screens for all possible mutations and sequence variations in genomic DNA. Here, I review current strategies and uses for DNA chip-based resequencing and mutational analysi...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/4469

    authors： Hacia JG

    更新日期：1999-01-01 00:00:00

  • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).

    abstract：:Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified uns...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0194-9

    authors： Koide R,Ikeuchi T,Onodera O,Tanaka H,Igarashi S,Endo K,Takahashi H,Kondo R,Ishikawa A,Hayashi T

    更新日期：1994-01-01 00:00:00

  • Microarray databases: standards and ontologies.

    abstract：:A single microarray can provide information on the expression of tens of thousands of genes. The amount of information generated by a microarray-based experiment is sufficiently large that no single study can be expected to mine each nugget of scientific information. As a consequence, the scale and complexity of micro...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/ng1028

    authors： Stoeckert CJ Jr,Causton HC,Ball CA

    更新日期：2002-12-01 00:00:00

  • Normal long bone growth and development in type X collagen-null mice.

    abstract：:To investigate the role of type X collagen in skeletal development, we have generated type X collagen-null mice. Surprisingly, mice without type X collagen were viable and fertile and had no gross abnormalities in long bone growth or development. No differences were detected between the type X collagen-null mice and c...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1094-129

    authors： Rosati R,Horan GS,Pinero GJ,Garofalo S,Keene DR,Horton WA,Vuorio E,de Crombrugghe B,Behringer RR

    更新日期：1994-10-01 00:00:00

  • Lung cancer susceptibility locus at 5p15.33.

    abstract：:We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.254

    authors： McKay JD,Hung RJ,Gaborieau V,Boffetta P,Chabrier A,Byrnes G,Zaridze D,Mukeria A,Szeszenia-Dabrowska N,Lissowska J,Rudnai P,Fabianova E,Mates D,Bencko V,Foretova L,Janout V,McLaughlin J,Shepherd F,Montpetit A,Narod S

    更新日期：2008-12-01 00:00:00

  • The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance.

    abstract：:As genetic marker maps have improved, multipoint linkage analysis has become a crucial part of all disease mapping studies. Paradoxically, multipoint lod scores become increasingly difficult to compute, particularly as the numbers of markers, marker alleles and untyped people increase. We have solved this problem by u...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1295-402

    authors： O'Connell JR,Weeks DE

    更新日期：1995-12-01 00:00:00

  • A literature network of human genes for high-throughput analysis of gene expression.

    abstract：:We have carried out automated extraction of explicit and implicit biomedical knowledge from publicly available gene and text databases to create a gene-to-gene co-citation network for 13,712 named human genes by automated analysis of titles and abstracts in over 10 million MEDLINE records. The associations between gen...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0501-21

    authors： Jenssen TK,Laegreid A,Komorowski J,Hovig E

    更新日期：2001-05-01 00:00:00

  • Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

    abstract：:We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 regio...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.2609

    authors： Fingerlin TE,Murphy E,Zhang W,Peljto AL,Brown KK,Steele MP,Loyd JE,Cosgrove GP,Lynch D,Groshong S,Collard HR,Wolters PJ,Bradford WZ,Kossen K,Seiwert SD,du Bois RM,Garcia CK,Devine MS,Gudmundsson G,Isaksson HJ,Kami

    更新日期：2013-06-01 00:00:00

  • Micro RNAs are complementary to 3' UTR sequence motifs that mediate negative post-transcriptional regulation.

    abstract：:Micro RNAs are a large family of noncoding RNAs of 21-22 nucleotides whose functions are generally unknown. Here a large subset of Drosophila micro RNAs is shown to be perfectly complementary to several classes of sequence motif previously demonstrated to mediate negative post-transcriptional regulation. These finding...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng865

    authors： Lai EC

    更新日期：2002-04-01 00:00:00

  • Common variants associated with general and MMR vaccine-related febrile seizures.

    abstract：:Febrile seizures represent a serious adverse event following measles, mumps and rubella (MMR) vaccination. We conducted a series of genome-wide association scans comparing children with MMR-related febrile seizures, children with febrile seizures unrelated to vaccination and controls with no history of febrile seizure...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3129

    authors： Feenstra B,Pasternak B,Geller F,Carstensen L,Wang T,Huang F,Eitson JL,Hollegaard MV,Svanström H,Vestergaard M,Hougaard DM,Schoggins JW,Jan LY,Melbye M,Hviid A

    更新日期：2014-12-01 00:00:00

  • Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response.

    abstract：:Regulatory variants are often context specific, modulating gene expression in a subset of possible cellular states. Although these genetic effects can play important roles in disease, the molecular mechanisms underlying context specificity are poorly understood. Here, we identified shared quantitative trait loci (QTLs...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0046-7

    authors： Alasoo K,Rodrigues J,Mukhopadhyay S,Knights AJ,Mann AL,Kundu K,HIPSCI Consortium.,Hale C,Dougan G,Gaffney DJ

    更新日期：2018-03-01 00:00:00

  • De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch.

    abstract：:Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity. PWS is due to a lack of paternal genetic information at 15q11-q13 (ref. 2). Five imprinted, paterna...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/75629

    authors： Bielinska B,Blaydes SM,Buiting K,Yang T,Krajewska-Walasek M,Horsthemke B,Brannan CI

    更新日期：2000-05-01 00:00:00

  • Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.

    abstract：:Two families with Gerstmann-Sträussler-Scheinker disease (GSS) are atypical in possessing neocortical neurofibrillary tangles (NFTs), which are few or absent in other kindreds with GSS, in addition to amyloid plaques that react with prion protein (PrP) antibodies and protease-resistant PrP accumulation in the brain. A...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0492-68

    authors： Hsiao K,Dlouhy SR,Farlow MR,Cass C,Da Costa M,Conneally PM,Hodes ME,Ghetti B,Prusiner SB

    更新日期：1992-04-01 00:00:00

  • Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice.

    abstract：:Integrins are heterodimeric transmembrane glycoproteins which are engaged in a variety of cellular functions, such as adhesion, migration and differentiation1. The integrin alpha 6 beta 4 is expressed on squamous epithelia, on subsets of endothelial cells, immature thymocytes and on Schwann cells and fibroblasts in th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0796-366

    authors： van der Neut R,Krimpenfort P,Calafat J,Niessen CM,Sonnenberg A

    更新日期：1996-07-01 00:00:00

  • G-quadruplex structures mark human regulatory chromatin.

    abstract：:G-quadruplex (G4) structural motifs have been linked to transcription, replication and genome instability and are implicated in cancer and other diseases. However, it is crucial to demonstrate the bona fide formation of G4 structures within an endogenous chromatin context. Herein we address this through the developmen...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3662

    authors： Hänsel-Hertsch R,Beraldi D,Lensing SV,Marsico G,Zyner K,Parry A,Di Antonio M,Pike J,Kimura H,Narita M,Tannahill D,Balasubramanian S

    更新日期：2016-10-01 00:00:00

  • Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease.

    abstract：:Although dietary gluten is the trigger for celiac disease, risk is strongly influenced by genetic variation in the major histocompatibility complex (MHC) region. We fine mapped the MHC association signal to identify additional risk factors independent of the HLA-DQA1 and HLA-DQB1 alleles and observed five new associat...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3268

    authors： Gutierrez-Achury J,Zhernakova A,Pulit SL,Trynka G,Hunt KA,Romanos J,Raychaudhuri S,van Heel DA,Wijmenga C,de Bakker PI

    更新日期：2015-06-01 00:00:00

  • Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

    abstract：:Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS an...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng2099

    authors： Winkelmann J,Schormair B,Lichtner P,Ripke S,Xiong L,Jalilzadeh S,Fulda S,Pütz B,Eckstein G,Hauk S,Trenkwalder C,Zimprich A,Stiasny-Kolster K,Oertel W,Bachmann CG,Paulus W,Peglau I,Eisensehr I,Montplaisir J,Turecki G

    更新日期：2007-08-01 00:00:00

  • Mouse mutagenesis on target.

    abstract：:Large-scale mutagenesis of the mouse genome is an essential task associated with the Human Genome Project. The two opposing schools of direct and reverse genetics have demonstrated comparable advantages, and yet large numbers of mutant lines have mostly been the prerogative of direct genetics. An improved gene-trappin...

    journal_title：Nature genetics

    pub_type： 评论,新闻

    doi：10.1038/90017

    authors： Jackson IJ

    更新日期：2001-07-01 00:00:00

  • Exome sequencing of liver fluke-associated cholangiocarcinoma.

    abstract：:Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes us...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2273

    authors： Ong CK,Subimerb C,Pairojkul C,Wongkham S,Cutcutache I,Yu W,McPherson JR,Allen GE,Ng CC,Wong BH,Myint SS,Rajasegaran V,Heng HL,Gan A,Zang ZJ,Wu Y,Wu J,Lee MH,Huang D,Ong P,Chan-on W,Cao Y,Qian CN,Lim KH,Ooi

    更新日期：2012-05-06 00:00:00

  • Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

    abstract：:In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman ...

    journal_title：Nature genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1038/s41588-018-0082-3

    authors： Turcot V,Lu Y,Highland HM,Schurmann C,Justice AE,Fine RS,Bradfield JP,Esko T,Giri A,Graff M,Guo X,Hendricks AE,Karaderi T,Lempradl A,Locke AE,Mahajan A,Marouli E,Sivapalaratnam S,Young KL,Alfred T,Feitosa MF,Mas

    更新日期：2018-05-01 00:00:00

  • TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells.

    abstract：:TET enzymes oxidize 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), which can lead to DNA demethylation. However, direct connections between TET-mediated DNA demethylation and transcriptional output are difficult to establish owing to challenges in distinguishing global versus locus-specific effects. Here we...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-017-0002-y

    authors： Verma N,Pan H,Doré LC,Shukla A,Li QV,Pelham-Webb B,Teijeiro V,González F,Krivtsov A,Chang CJ,Papapetrou EP,He C,Elemento O,Huangfu D

    更新日期：2018-01-01 00:00:00

  • A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.

    abstract：:Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independe...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3417

    authors： Buch S,Stickel F,Trépo E,Way M,Herrmann A,Nischalke HD,Brosch M,Rosendahl J,Berg T,Ridinger M,Rietschel M,McQuillin A,Frank J,Kiefer F,Schreiber S,Lieb W,Soyka M,Semmo N,Aigner E,Datz C,Schmelz R,Brückner S,Ze

    更新日期：2015-12-01 00:00:00

  • Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.

    abstract：:Hundreds of genes reside in structurally complex, poorly understood regions of the human genome. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) responsible for digesting starch into sugar. Copy number of AMY1 is reported to be the largest genomic influence on obesity, although genome-wide ass...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3340

    authors： Usher CL,Handsaker RE,Esko T,Tuke MA,Weedon MN,Hastie AR,Cao H,Moon JE,Kashin S,Fuchsberger C,Metspalu A,Pato CN,Pato MT,McCarthy MI,Boehnke M,Altshuler DM,Frayling TM,Hirschhorn JN,McCarroll SA

    更新日期：2015-08-01 00:00:00

  • The extent of linkage disequilibrium in Arabidopsis thaliana.

    abstract：:Linkage disequilibrium (LD), the nonrandom occurrence of alleles in haplotypes, has long been of interest to population geneticists. Recently, the rapidly increasing availability of genomic polymorphism data has fueled interest in LD as a tool for fine-scale mapping, in particular for human disease loci. The chromosom...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng813

    authors： Nordborg M,Borevitz JO,Bergelson J,Berry CC,Chory J,Hagenblad J,Kreitman M,Maloof JN,Noyes T,Oefner PJ,Stahl EA,Weigel D

    更新日期：2002-02-01 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

  • Human artificial episomal chromosomes for cloning large DNA fragments in human cells.

    abstract：:We have developed a human artificial episomal chromosome (HAEC) system, based on the latent replication origin of the large herpes Epstein-Barr virus, for the propagation and stable maintenance of DNA as circular minichromosomes in human cells. Individual HAECs carried human genomic inserts ranging from 60-330 kb and ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0994-33

    authors： Sun TQ,Fenstermacher DA,Vos JM

    更新日期：1994-09-01 00:00:00

  • Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

    abstract：:To evaluate the shared genetic etiology of type 2 diabetes (T2D) and coronary heart disease (CHD), we conducted a genome-wide, multi-ancestry study of genetic variation for both diseases in up to 265,678 subjects for T2D and 260,365 subjects for CHD. We identify 16 previously unreported loci for T2D and 1 locus for CH...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3943

    authors： Zhao W,Rasheed A,Tikkanen E,Lee JJ,Butterworth AS,Howson JMM,Assimes TL,Chowdhury R,Orho-Melander M,Damrauer S,Small A,Asma S,Imamura M,Yamauch T,Chambers JC,Chen P,Sapkota BR,Shah N,Jabeen S,Surendran P,Lu Y,Zh

    更新日期：2017-10-01 00:00:00