0000000000895623

AUTHOR

Amy Jayne Mcknight

showing 5 related works from this author

Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen

2019

BACKGROUND: Although diabetic kidney disease demonstrates both familial clustering and single nucleotide polymorphism heritability, the specific genetic factors influencing risk remain largely unknown.METHODS: To identify genetic variants predisposing to diabetic kidney disease, we performed genome-wide association study (GWAS) analyses. Through collaboration with the Diabetes Nephropathy Collaborative Research Initiative, we assembled a large collection of type 1 diabetes cohorts with harmonized diabetic kidney disease phenotypes. We used a spectrum of ten diabetic kidney disease definitions based on albuminuria and renal function.RESULTS: Our GWAS meta-analysis included association result…

Collagen Type IVMale0301 basic medicineEXPRESSIONNEPHROPATHY030232 urology & nephrologyPROTEINGenome-wide association studyRECEPTOR TYROSINE KINASESBiologySUSCEPTIBILITYBioinformaticsurologic and male genital diseasesAutoantigensNephropathyEnd stage renal diseaseCohort StudiesDiabetic nephropathy03 medical and health sciences0302 clinical medicineSDG 3 - Good Health and Well-beingDiabetes mellitusGlomerular Basement MembranemedicineHumansDiabetic NephropathiesAlport syndromeLetter to the EditorCOMPLICATIONSNITRIC-OXIDEMUTATIONS1184 Genetics developmental biology physiologyGeneral Medicinemedicine.diseaseGENE3. Good healthDiabetes Mellitus Type 1030104 developmental biologyNephrology3121 General medicine internal medicine and other clinical medicineMutationAlbuminuria/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemale3111 Biomedicinemedicine.symptomCOLLECTIN 11 CL-11Genome-Wide Association StudyKidney disease
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Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

2020

Abstract Background Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD. Methods To identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB). We ascertained early AMD via color fundus photographs by manual grading for 10 sources and via an automated machine learning approach for > 170,000 photographs from UKBB. We searched for early AMD loc…

0301 basic medicinegenetic structures610 MedizinGenome-wide association studyMacular Degeneration0302 clinical medicineAdvanced diseaseCD46Genetics (clinical)GeneticsInternational AMD genomics consortium (IAMDGC)ddc:6100303 health sciencesGenome-wide association study (GWAS)3. Good health030220 oncology & carcinogenesisAge-related macular degeneration (AMD)Meta-analysisResearch ArticleGenetic Markerslcsh:Internal medicineUK biobank (UKBB)lcsh:QH426-470Locus (genetics)GenomicsComputational biologyBiologyPolymorphism Single NucleotideGenome-wide association study (GWAS) Meta-analysis Age-related macular degeneration (AMD) Early AMD CD46 TYR International AMD genomics consortium (IAMDGC) UK biobank (UKBB) Machine-learning Automated phenotyping03 medical and health sciencesEarly AMDGeneticsmedicineHumansGenetic Predisposition to DiseaseGenome-wide Association Study (gwas) ; Meta-analysis ; Age-related Macular Degeneration (amd) ; Early Amd ; Cd46 ; Tyr ; International Amd Genomics Consortium (iamdgc) ; Uk Biobank (ukbb) ; Machine-learning ; Automated Phenotypinglcsh:RC31-1245Machine-learning030304 developmental biologyTYRCD46Macular degenerationmedicine.diseaseHuman geneticseye diseasesGenetic architectureMeta-analysislcsh:Genetics030104 developmental biologyGenetic LociCase-Control StudiesAutomated phenotypingHTRA1030221 ophthalmology & optometrysense organsGenome-Wide Association Study
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Additional file 3 of Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced…

2020

Additional file 3: Supplementary Figures.

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Additional file 2 of Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced…

2020

Additional file 2: Supplementary Note.

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Additional file 1 of Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced…

2020

Additional file 1: Supplementary Tables.

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