0000000000089626

AUTHOR

Sarah Ennis

showing 3 related works from this author

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

2013

The author manuscript of this article is open access and is freely available online at PubMed Central

medicine.medical_specialtyKeratoconusCorneal Pachymetrygenetic structuresthickness; keratoconus; geneGlaucomaOcular hypertensionGenome-wide association studyBiologyReal-Time Polymerase Chain ReactionKeratoconusWhite PeopleArticleCentral corneal thicknessCorneaAsian PeopleOphthalmologyCorneaOdds RatioGeneticsmedicineHumansCorneal pachymetrymedicine.diagnostic_testForkhead Box Protein O1Forkhead Transcription FactorsGlaucomaOdds ratioMicroarray Analysismedicine.diseaseConfidence intervaleye diseasesFibronectinsmedicine.anatomical_structureGenetic Locisense organsGenome-Wide Association Study
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Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

2014

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693…

MaleIntraocular pressuregenetic structuresGlaucomaGenome-wide association studyCohort Studies0302 clinical medicinePolymorphism (computer science)Risk FactorsPOPULATIONGeneticsAged 80 and overRISK0303 health scienceseducation.field_of_studyCOMMON VARIANTSASSOCIATIONMiddle AgedFemaleTRIALChromosomes Human Pair 3OPEN-ANGLE GLAUCOMAChromosomes Human Pair 9Glaucoma Open-AngleATP Binding Cassette Transporter 1AdultEXPRESSIONmedicine.medical_specialtyOpen angle glaucomaGenotypePopulationChromosome 9BiologyPolymorphism Single NucleotideArticleABO Blood-Group System03 medical and health sciencesYoung AdultMeta-Analysis as TopicOphthalmologyGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationCENTRAL CORNEAL THICKNESSIntraocular PressureMETAANALYSIS030304 developmental biologyGenetic associationAgedChromosomes Human Pair 11Glaucomamedicine.diseaseeye diseasesFibronectinsREDUCTIONGenetic Loci030221 ophthalmology & optometrysense organsGenome-Wide Association StudyNature Genetics
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Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive err…

2020

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 …

genetic structureslikinäköisyyssense organsgeneettiset tekijäteye diseases
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