Search results for " CD46"

showing 2 items of 2 documents

Two Patients With History of STEC-HUS, Posttransplant Recurrence and Complement Gene Mutations

2013

Hemolytic uremic syndrome (HUS) is a disease of microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. About 90% of cases are secondary to infections by Escherichia coli strains producing Shiga-like toxins (STEC-HUS), while 10% are associated with mutations in genes encoding proteins of complement system (aHUS). We describe two patients with a clinical history of STEC-HUS, who developed end-stage renal disease (ESRD) soon after disease onset. They received a kidney transplant but lost the graft for HUS recurrence, a complication more commonly observed in aHUS. Before planning a second renal transplantation, the two patients underwent genetic screening for aHUS-associat…

Shiga-toxinGraft RejectionMaleDNA Primer030232 urology & nephrologyEscherichia coli InfectionGene mutationurologic and male genital diseasesGastroenterology0302 clinical medicineRecurrenceRisk Factorshemic and lymphatic diseasesImmunology and AllergyPharmacology (medical)gene mutationKidney transplantationEscherichia coli Infections0303 health sciencesKidneymedicine.diagnostic_testShiga-Toxigenic Escherichia coliAntigens CD46Microangiopathic hemolytic anemiaMiddle AgedPrognosisfemale genital diseases and pregnancy complications3. Good healthPedigreemedicine.anatomical_structureComplement Factor IComplement factor I; gene mutation; hemolytic uremic syndrome; kidney transplantation; membrane cofactor protein; Shiga-toxin; Adult; Antigens CD46; Case-Control Studies; Complement Factor I; DNA Primers; Escherichia coli Infections; Female; Genetic Testing; Graft Rejection; Hemolytic-Uremic Syndrome; Heterozygote; Humans; Kidney Failure Chronic; Kidney Transplantation; Male; Middle Aged; Mutation; Pedigree; Prognosis; Recurrence; Risk Factors; Shiga-Toxigenic Escherichia coli; Thrombocytopenia; Young Adult; Transplantation; Immunology and Allergy; Pharmacology (medical)FemaleCase-Control StudieHumanAdultmedicine.medical_specialtyHeterozygotePrognosiComplement factor IMembrane Cofactor Protein03 medical and health sciencesYoung AdultInternal medicinemedicineHumansGenetic Testing030304 developmental biologyGenetic testingDNA PrimersTransplantationbusiness.industryCD46Risk Factormedicine.diseaseKidney TransplantationThrombocytopeniaTransplantationCase-Control StudiesImmunologyHemolytic-Uremic SyndromeMutationhemolytic uremic syndromeKidney Failure ChronicbusinessAmerican Journal of Transplantation
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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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