当前位置： SCI文献检索 > Scientific Reports期刊下所有文献 > Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci.

Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci.

Abstract：

:Chronic venous disease (CVD) is a multifactorial condition representing one of the most common disorders among populations of Western countries. The heritability of about 17% suggests genetic risk factors in CVD etiology. However, so far the genetic causes are unknown. We undertook the hitherto first genome-wide association study (GWAS) for CVD, analyzing more than 1.93 M SNPs in 4,942 German individuals, followed by replication in two independent German data sets. The combined analysis of discovery and replication stages (2,269 cases and 7,765 controls) yielded robust associations within the two genes EFEMP1 and KCNH8 (rs17278665, rs727139 with P < 5 × 10-8), and suggestive association within gene SKAP2 (rs2030136 with P < 5 × 10-7). Association signals of rs17278665 and rs727139 reside in regions of low linkage disequilibrium containing no other genes. Data from the ENCODE and Roadmap Epigenomics projects show that tissue specific marks overlap with the variants. SNPs rs17278665 and rs2030136 are known eQTLs. Our study demonstrates that GWAS are a valuable tool to study the genetic component of CVD. With our approach, we identified two novel genome-wide significant susceptibility loci for this common disease. Particularly, the extracellular matrix glycoprotein EFEMP1 is promising for future functional studies due to its antagonistic role in vessel development and angiogenesis.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Ellinghaus E,Ellinghaus D,Krusche P,Greiner A,Schreiber C,Nikolaus S,Gieger C,Strauch K,Lieb W,Rosenstiel P,Frings N,Fiebig A,Schreiber S,Franke A

doi

10.1038/srep45652

subject

Has Abstract

pub_date

2017-04-04 00:00:00

pages

45652

issn

2045-2322

pii

srep45652

journal_volume

7

pub_type

杂志文章

相关文献

Scientific Reports文献大全
  • Early urinary protein changes during tumor formation in a NuTu-19 tail vein injection rat model.

    abstract：:Early detection of cancer is essential for effective intervention. Urine has been used to reflect early changes in various tumor-bearing models. However, urine has not been used to predict whether tumors will form in animal models. In this study, a cancer model was established by tail vein injection of 2 million NuTu-...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-68674-z

    authors： Wei J,Ni N,Meng W,Huan Y,Gao Y

    更新日期：2020-07-16 00:00:00

  • The structure of SeviL, a GM1b/asialo-GM1 binding R-type lectin from the mussel Mytilisepta virgata.

    abstract：:SeviL is a recently isolated lectin found to bind to the linear saccharides of the ganglioside GM1b (Neu5Ac[Formula: see text](2-3)Gal[Formula: see text](1-3)GalNAc[Formula: see text](1-4)Gal[Formula: see text](1-4)Glc) and its precursor, asialo-GM1 (Gal[Formula: see text](1-3)GalNAc[Formula: see text](1-4)Gal[Formula...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-78926-7

    authors： Kamata K,Mizutani K,Takahashi K,Marchetti R,Silipo A,Addy C,Park SY,Fujii Y,Fujita H,Konuma T,Ikegami T,Ozeki Y,Tame JRH

    更新日期：2020-12-16 00:00:00

  • Autophagy inhibition of hsa-miR-19a-3p/19b-3p by targeting TGF-β R II during TGF-β1-induced fibrogenesis in human cardiac fibroblasts.

    abstract：:Transforming growth factor-β1 (TGF-β1) plays an important role on fibrogenesis in heart disease. MicroRNAs have exhibited as crucial regulators of cardiac homeostasis and remodeling in various heart diseases. MiR-19a-3p/19b-3p expresses with low levels in the plasma of heart failure patients. The purpose of our study ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep24747

    authors： Zou M,Wang F,Gao R,Wu J,Ou Y,Chen X,Wang T,Zhou X,Zhu W,Li P,Qi LW,Jiang T,Wang W,Li C,Chen J,He Q,Chen Y

    更新日期：2016-04-21 00:00:00

  • MnGa-based fully perpendicular magnetic tunnel junctions with ultrathin Co2MnSi interlayers.

    abstract：:Because tetragonal structured MnGa alloy has intrinsic (not interface induced) giant perpendicular magnetic anisotropy (PMA), ultra-low damping constant and high spin polarization, it is predicted to be a kind of suitable magnetic electrode candidate in the perpendicular magnetic tunnel junction (p-MTJ) for high densi...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep43064

    authors： Mao S,Lu J,Zhao X,Wang X,Wei D,Liu J,Xia J,Zhao J

    更新日期：2017-02-24 00:00:00

  • Author Correction: Pectin as an Extraordinary Natural Kinetic Hydrate Inhibitor.

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

    journal_title：Scientific reports

    pub_type： 已发布勘误

    doi：10.1038/s41598-020-65654-1

    authors： Xu S,Fan S,Fang S,Lang X,Wang Y,Chen J

    更新日期：2020-05-26 00:00:00

  • Overexpression of SerpinE2/protease nexin-1 Contribute to Pathological Cardiac Fibrosis via increasing Collagen Deposition.

    abstract：:Although increases in cardiovascular load (pressure overload) are known to elicit ventricular remodeling including cardiomyocyte hypertrophy and interstitial fibrosis, the molecular mechanisms of pressure overload or AngII -induced cardiac interstitial fibrosis remain elusive. In this study, serpinE2/protease nexin-1 ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep37635

    authors： Li X,Zhao D,Guo Z,Li T,Qili M,Xu B,Qian M,Liang H,E X,Chege Gitau S,Wang L,Huangfu L,Wu Q,Xu C,Shan H

    更新日期：2016-11-23 00:00:00

  • Manual, In situ, Real-Time Nanofabrication using Cracking through Indentation.

    abstract：:Nanofabrication has seen an increasing demand for applications in many fields of science and technology, but its production still requires relatively difficult, time-consuming, and expensive processes. Here we report a simple but very effective one dimensional (1D) nano-patterning technology that suggests a new nanofa...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep18892

    authors： Nam KH,Suh YD,Yeo J,Woo D

    更新日期：2016-01-04 00:00:00

  • Suppression of chorismate synthase, which is localized in chloroplasts and peroxisomes, results in abnormal flower development and anthocyanin reduction in petunia.

    abstract：:In plants, the shikimate pathway generally occurs in plastids and leads to the biosynthesis of aromatic amino acids. Chorismate synthase (CS) catalyses the last step of the conversion of 5-enolpyruvylshikimate 3-phosphate (EPSP) to chorismate, but the role of CS in the metabolism of higher plants has not been reported...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-67671-6

    authors： Zhong S,Chen Z,Han J,Zhao H,Liu J,Yu Y

    更新日期：2020-07-02 00:00:00

  • Core-shell Au@Pd nanoparticles with enhanced catalytic activity for oxygen reduction reaction via core-shell Au@Ag/Pd constructions.

    abstract：:Core-shell nanoparticles often exhibit improved catalytic properties due to the lattice strain created in these core-shell particles. Herein, we demonstrate the synthesis of core-shell Au@Pd nanoparticles from their core-shell Au@Ag/Pd parents. This strategy begins with the preparation of core-shell Au@Ag nanoparticle...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep11949

    authors： Chen D,Li C,Liu H,Ye F,Yang J

    更新日期：2015-07-06 00:00:00

  • Friedelin Synthase from Maytenus ilicifolia: Leucine 482 Plays an Essential Role in the Production of the Most Rearranged Pentacyclic Triterpene.

    abstract：:Among the biologically active triterpenes, friedelin has the most-rearranged structure produced by the oxidosqualene cyclases and is the only one containing a cetonic group. In this study, we cloned and functionally characterized friedelin synthase and one cycloartenol synthase from Maytenus ilicifolia (Celastraceae)....

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep36858

    authors： Souza-Moreira TM,Alves TB,Pinheiro KA,Felippe LG,De Lima GM,Watanabe TF,Barbosa CC,Santos VA,Lopes NP,Valentini SR,Guido RV,Furlan M,Zanelli CF

    更新日期：2016-11-22 00:00:00

  • Beta-trace Protein as a new non-invasive immunological Marker for Quinolinic Acid-induced impaired Blood-Brain Barrier Integrity.

    abstract：:Quinolinic acid, a macrophage/microglia-derived excitotoxin fulfills a plethora of functions such as neurotoxin, gliotoxin, and proinflammatory mediator, and it alters the integrity and cohesion of the blood-brain barrier in several pathophysiological states. Beta-trace protein (BTP), a monomeric glycoprotein, is know...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep43642

    authors： Baranyi A,Amouzadeh-Ghadikolai O,Lewinski DV,Breitenecker RJ,Stojakovic T,März W,Robier C,Rothenhäusler HB,Mangge H,Meinitzer A

    更新日期：2017-03-09 00:00:00

  • Identification of two structural elements important for ribosome-dependent GTPase activity of elongation factor 4 (EF4/LepA).

    abstract：:The bacterial translational GTPase EF4/LepA is structurally similar to the canonical elongation factor EF-G. While sharing core structural features with other translational GTPases, the function of EF4 remains unknown. Recent structural data locates the unique C-terminal domain (CTD) of EF4 in proximity to the ribosom...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep08573

    authors： De Laurentiis EI,Wieden HJ

    更新日期：2015-02-25 00:00:00

  • Hepatocytic transcriptional signatures predict comparative drug interaction potential of rifamycin antibiotics.

    abstract：:Current strategies to treat tuberculosis (TB) and co-morbidities involve multidrug combination therapies. Rifamycin antibiotics are a key component of TB therapy and a common source of drug-drug interactions (DDIs) due to induction of drug metabolizing enzymes (DMEs). Management of rifamycin DDIs are complex, particul...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-69228-z

    authors： Dyavar SR,Mykris TM,Winchester LC,Scarsi KK,Fletcher CV,Podany AT

    更新日期：2020-07-28 00:00:00

  • Routine use of HbA1c amongst inpatients hospitalised with decompensated heart failure and the association of dysglycaemia with outcomes.

    abstract：:Diabetes is an independent risk factor for development of heart failure and has been associated with poor outcomes in these patients. The prevalence of diabetes continues to rise. Using routine HbA1c measurements on inpatients at a tertiary hospital, we aimed to investigate the prevalence of diabetes amongst patients ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-31473-8

    authors： Khoo K,Lew J,Neef P,Kearney L,Churilov L,Robbins R,Tan A,Hachem M,Owen-Jones L,Lam Q,Hart GK,Wilson A,Sumithran P,Johnson D,Srivastava PM,Farouque O,Burrell LM,Zajac JD,Ekinci EI

    更新日期：2018-09-10 00:00:00

  • Protein-protein interactions reveal key canonical pathways, upstream regulators, interactome domains, and novel targets in ALS.

    abstract：:Developing effective treatment strategies for neurodegenerative diseases require an understanding of the underlying cellular pathways that lead to neuronal vulnerability and progressive degeneration. To date, numerous mutations in 147 distinct genes are identified to be "associated" with, "modifier" or "causative" of ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-32902-4

    authors： Dervishi I,Gozutok O,Murnan K,Gautam M,Heller D,Bigio E,Ozdinler PH

    更新日期：2018-10-03 00:00:00

  • Identification of temozolomide resistance factors in glioblastoma via integrative miRNA/mRNA regulatory network analysis.

    abstract：:Drug resistance is a major issue in the treatment of glioblastoma. Almost all glioblastomas are intrinsically resistant to chemotherapeutic temozolomide (TMZ) or develop resistance during treatment. The interaction networks of microRNAs (miRNAs) and mRNAs likely regulate most biological processes and can be employed t...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep05260

    authors： Hiddingh L,Raktoe RS,Jeuken J,Hulleman E,Noske DP,Kaspers GJ,Vandertop WP,Wesseling P,Wurdinger T

    更新日期：2014-06-11 00:00:00

  • Functional transcription factor target discovery via compendia of binding and expression profiles.

    abstract：:Genome-wide experiments to map the DNA-binding locations of transcription-associated factors (TFs) have shown that the number of genes bound by a TF far exceeds the number of possible direct target genes. Distinguishing functional from non-functional binding is therefore a major challenge in the study of transcription...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep20649

    authors： Banks CJ,Joshi A,Michoel T

    更新日期：2016-02-09 00:00:00

  • High Efficiency Inorganic/Inorganic Amorphous Silicon/Heterojunction Silicon Tandem Solar Cells.

    abstract：:We investigated high-efficiency two-terminal tandem photovoltaic (PV) devices consisting of a p/i/n thin film silicon top sub-cell (p/i/n-TFS) and a heterojunction with an intrinsic thin-layer (HIT) bottom sub-cell. We used computer simulations and experimentation. The short-circuit current density (Jsc) of the top su...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-33734-y

    authors： Park J,Dao VA,Kim S,Pham DP,Kim S,Le AHT,Kang J,Yi J

    更新日期：2018-10-18 00:00:00

  • Gamma-ray emission from wakefield-accelerated electrons wiggling in a laser field.

    abstract：:Ultra-fast synchrotron radiation emission can arise from the transverse betatron motion of an electron in a laser plasma wakefield, and the radiation spectral peak is limited to tens of keV. Here, we present a new method for achieving high-energy radiation via accelerated electrons wiggling in an additional laser fiel...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-38777-3

    authors： Feng J,Li Y,Wang J,Li D,Li F,Yan W,Wang W,Chen L

    更新日期：2019-02-21 00:00:00

  • Author Correction: Cytokine storms are primarily responsible for the rapid death of ducklings infected with duck hepatitis A virus type 1.

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

    journal_title：Scientific reports

    pub_type： 已发布勘误

    doi：10.1038/s41598-020-62439-4

    authors： Xie J,Wang M,Cheng A,Zhao XX,Liu M,Zhu D,Chen S,Jia R,Yang Q,Wu Y,Zhang S,Liu Y,Yu Y,Zhang L,Sun K,Chen X

    更新日期：2020-03-24 00:00:00

  • S-Glutathionylated Serine Proteinase Inhibitors as Biomarkers for Radiation Exposure in Prostate Cancer Patients.

    abstract：:In biological tissues, radiation causes the formation of reactive oxygen species (ROS), some of which lead to sequential oxidation of certain protein cysteine residues. Resultant cysteinyl radicals are subject to post-translational modification through S-glutathionylation. The present clinical trial was designed to de...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-50288-9

    authors： Zhang L,Zhang J,Ye Z,Manevich Y,Townsend DM,Marshall DT,Tew KD

    更新日期：2019-09-24 00:00:00

  • Tumour sampling method can significantly influence gene expression profiles derived from neoadjuvant window studies.

    abstract：:Patient-matched transcriptomic studies using tumour samples before and after treatment allow inter-patient heterogeneity to be controlled, but tend not to include an untreated comparison. Here, Illumina BeadArray technology was used to measure dynamic changes in gene expression from thirty-seven paired diagnostic core...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep29434

    authors： Pearce DA,Arthur LM,Turnbull AK,Renshaw L,Sabine VS,Thomas JS,Bartlett JM,Dixon JM,Sims AH

    更新日期：2016-07-07 00:00:00

  • An efficient full-length cDNA amplification strategy based on bioinformatics technology and multiplexed PCR methods.

    abstract：:A novel strategy for amplification full-length cDNA and promoter sequences has been developed using bioinformatics technology and multiplexed PCR methods in this study. The amplification of 3' ends of cDNA is performed according to the modified classic 3' RACE techniques, therein the more efficient and effective oligo...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep19420

    authors： Chen N,Wang WM,Wang HL

    更新日期：2016-01-13 00:00:00

  • Automated Detection of Vessel Abnormalities on Fluorescein Angiogram in Malarial Retinopathy.

    abstract：:The detection and assessment of intravascular filling defects is important, because they may represent a process central to cerebral malaria pathogenesis: neurovascular sequestration. We have developed and validated a framework that can automatically detect intravascular filling defects in fluorescein angiogram images...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep11154

    authors： Zhao Y,MacCormick IJ,Parry DG,Beare NA,Harding SP,Zheng Y

    更新日期：2015-06-08 00:00:00

  • Junction formation and current transport mechanisms in hybrid n-Si/PEDOT:PSS solar cells.

    abstract：UNLABELLED:We investigated hybrid inorganic-organic solar cells combining monocrystalline n-type silicon (n-Si) and a highly conductive polymer poly(3,4-ethylenedioxythiophene)-poly(styrene sulfonate) ( PEDOT:PSS). The build-in potential, photo- and dark saturation current at this hybrid interface are monitored for va...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep13008

    authors： Jäckle S,Mattiza M,Liebhaber M,Brönstrup G,Rommel M,Lips K,Christiansen S

    更新日期：2015-08-17 00:00:00

  • Reduction of fatigue and anger-hostility by the oral administration of 5-aminolevulinic acid phosphate: a randomized, double-blind, placebo-controlled, parallel study.

    abstract：:Although large populations feel fatigue, the standardized medicinal therapy is currently absent. In this study, we determined whether 5-aminolevulinic acid (5-ALA) supplementation alleviates the feeling of fatigue in healthy subjects who feel chronic physical tiredness. Males and females between ages of 20 and 64 who ...

    journal_title：Scientific reports

    pub_type： 杂志文章,随机对照试验

    doi：10.1038/s41598-020-72763-4

    authors： Higashikawa F,Kanno K,Ogata A,Sugiyama M

    更新日期：2020-09-29 00:00:00

  • A Miocene impact ejecta layer in the pelagic Pacific Ocean.

    abstract：:Meteorite impacts have caused catastrophic perturbations to the global environment and mass extinctions throughout the Earth's history. Here, we present petrographic and geochemical evidence of a possible impact ejecta layer, dating from about 11 Ma, in deep-sea clayey sediment in the Northwest Pacific. This clay laye...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-52709-1

    authors： Nozaki T,Ohta J,Noguchi T,Sato H,Ishikawa A,Takaya Y,Kimura JI,Chang Q,Shimada K,Ishibashi JI,Yasukawa K,Kimoto K,Iijima K,Kato Y

    更新日期：2019-11-20 00:00:00

  • Oral epithelial cell sheets engraftment for esophageal strictures after endoscopic submucosal dissection of squamous cell carcinoma and airplane transportation.

    abstract：:Endoscopic submucosal dissection (ESD) permits en bloc removal of superficial oesophageal squamous cell carcinoma (ESCC). However, post-procedure stricture is common after ESD for widespread tumours, and multiple endoscopic balloon dilation (EBD) procedures are required. We aimed to evaluate the safety and effectivene...

    journal_title：Scientific reports

    pub_type： 临床试验,杂志文章

    doi：10.1038/s41598-017-17663-w

    authors： Yamaguchi N,Isomoto H,Kobayashi S,Kanai N,Kanetaka K,Sakai Y,Kasai Y,Takagi R,Ohki T,Fukuda H,Kanda T,Nagai K,Asahina I,Nakao K,Yamato M,Okano T,Eguchi S

    更新日期：2017-12-12 00:00:00

  • Intracellular immunization against HIV infection with an intracellular antibody that mimics HIV integrase binding to the cellular LEDGF protein.

    abstract：:Preventing the protein-protein interaction of the cellular chromatin binding protein Lens Epithelium-Derived Growth Factor (LEDGF) and human immunodeficiency virus (HIV) integrase is an important possible strategy for anti-viral treatment for AIDS. We have used Intracellular Antibody Capture technology to isolate a si...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-16742-2

    authors： Bao L,Hannon C,Cruz-Mignoni A,Ptchelkine D,Sun MY,Miller A,Bunjobpol W,Quevedo CE,Derveni M,Chambers J,Simmons A,Phillips SEV,Rabbitts TH

    更新日期：2017-12-04 00:00:00

  • Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.

    abstract：:Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this mis...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-02721-0

    authors： Alvizi L,Ke X,Brito LA,Seselgyte R,Moore GE,Stanier P,Passos-Bueno MR

    更新日期：2017-05-26 00:00:00