Pretraga

Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 1259600

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

(Consortium for Refractive Error and Myopia (CREAM) ; UK Biobank Eye and Vision Consortium) Fan, Qiao; ...; Polašek, Ozren; ...; Cheng, Ching-Yu; Consortium for Refractive Error and Myopia (CREAM); UK Biobank Eye and Vision Consortium
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error // Communications Biology, 3 (2020), 1; 133, 14 doi:10.1038/s42003-020-0802-y (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1259600 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Autori
Fan, Qiao ; ... ; Polašek, Ozren ; ... ; Cheng, Ching-Yu ; Consortium for Refractive Error and Myopia (CREAM) ; UK Biobank Eye and Vision Consortium

Kolaboracija
Consortium for Refractive Error and Myopia (CREAM) ; UK Biobank Eye and Vision Consortium

Izvornik
Communications Biology (2399-3642) 3 (2020), 1; 133, 14

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Asian Continental Ancestry Group ; Axial Length, Eye ; Cornea ; Corneal Topography ; Databases, Genetic ; European Continental Ancestry Group ; Gene Regulatory Networks ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Myopia ; Phenotype ; Polymorphism, Single Nucleotide ; Refractometry ; Risk Assessment ; Risk Factors

Sažetak
Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta- analysis of corneal curvature GWAS in 44, 042 individuals of Caucasian and Asian with replication in 88, 218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213) ; others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Ozren Polašek (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

(Consortium for Refractive Error and Myopia (CREAM) ; UK Biobank Eye and Vision Consortium) Fan, Qiao; ...; Polašek, Ozren; ...; Cheng, Ching-Yu; Consortium for Refractive Error and Myopia (CREAM); UK Biobank Eye and Vision Consortium
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error // Communications Biology, 3 (2020), 1; 133, 14 doi:10.1038/s42003-020-0802-y (međunarodna recenzija, članak, znanstveni)
(Consortium for Refractive Error and Myopia (CREAM) ; UK Biobank Eye and Vision Consortium) (Consortium for Refractive Error and Myopia (CREAM), UK Biobank Eye and Vision Consortium) Fan, Q., ..., Polašek, O., ..., Cheng, C., Consortium for Refractive Error and Myopia (CREAM) & UK Biobank Eye and Vision Consortium (2020) Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. Communications Biology, 3 (1), 133, 14 doi:10.1038/s42003-020-0802-y.
@article{article, author = {Fan, Qiao and Pola\v{s}ek, Ozren and Cheng, Ching-Yu}, year = {2020}, pages = {14}, DOI = {10.1038/s42003-020-0802-y}, chapter = {133}, keywords = {Asian Continental Ancestry Group, Axial Length, Eye, Cornea, Corneal Topography, Databases, Genetic, European Continental Ancestry Group, Gene Regulatory Networks, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Myopia, Phenotype, Polymorphism, Single Nucleotide, Refractometry, Risk Assessment, Risk Factors}, journal = {Communications Biology}, doi = {10.1038/s42003-020-0802-y}, volume = {3}, number = {1}, issn = {2399-3642}, title = {Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error}, keyword = {Asian Continental Ancestry Group, Axial Length, Eye, Cornea, Corneal Topography, Databases, Genetic, European Continental Ancestry Group, Gene Regulatory Networks, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Myopia, Phenotype, Polymorphism, Single Nucleotide, Refractometry, Risk Assessment, Risk Factors}, chapternumber = {133} }
@article{article, author = {Fan, Qiao and Pola\v{s}ek, Ozren and Cheng, Ching-Yu}, year = {2020}, pages = {14}, DOI = {10.1038/s42003-020-0802-y}, chapter = {133}, keywords = {Asian Continental Ancestry Group, Axial Length, Eye, Cornea, Corneal Topography, Databases, Genetic, European Continental Ancestry Group, Gene Regulatory Networks, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Myopia, Phenotype, Polymorphism, Single Nucleotide, Refractometry, Risk Assessment, Risk Factors}, journal = {Communications Biology}, doi = {10.1038/s42003-020-0802-y}, volume = {3}, number = {1}, issn = {2399-3642}, title = {Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error}, keyword = {Asian Continental Ancestry Group, Axial Length, Eye, Cornea, Corneal Topography, Databases, Genetic, European Continental Ancestry Group, Gene Regulatory Networks, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Myopia, Phenotype, Polymorphism, Single Nucleotide, Refractometry, Risk Assessment, Risk Factors}, chapternumber = {133} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

Citati:

    Altmetrijski pokazatelji:


    Podijeli:





    Contrast
    Increase Font
    Decrease Font
    Dyslexic Font
    CROSBI koristi kolačiće (cookies) kako bi poboljšao funkcionalnost stranice.