0000000000531062

AUTHOR

Maria Lajer

showing 3 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 study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

2018

Diabetic kidney disease (DKD) is a heritable but poorly understood complication of diabetes. To identify genetic variants predisposing to DKD, we performed genome-wide association analyses in 19,406 individuals with type 1 diabetes (T1D) using a spectrum of DKD definitions basedon albuminuria and renal function. We identified 16 genome-wide significant loci. The variant with the strongest association (rs55703767) is a common missense mutation in the collagen type IV alpha 3 chain(COL4A3)gene, which encodes a major structural component of the glomerular basement membrane (GBM) implicated in heritable nephropathies. The rs55703767 minor allele (Asp326Tyr) is protective against several definit…

0303 health sciencesGlomerular basement membraneRenal function030209 endocrinology & metabolismGenome-wide association studyBiologyurologic and male genital diseasesmedicine.diseaseBioinformatics3. Good healthMinor allele frequencyPathogenesis03 medical and health sciences0302 clinical medicinemedicine.anatomical_structureDiabetes mellitusAlbuminuriamedicineMissense mutationmedicine.symptom030304 developmental biology
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Urinary adiponectin excretion rises with increasing albuminuria in type 1 diabetes

2013

Urinary adiponectin (u-adiponectin) excretion has been suggested to reflect early glomerular damage. Inspired by this, we studied the levels of u-adiponectin in type 1 diabetic patients with different levels of urinary albumin excretion (UAE).U-adiponectin was analysed by ELISA in type 1 diabetic patients: Fifty-eight with normoalbuminuria (30mg albumin/24h), 43 with persistent microalbuminuria (30-300mg/24h) and 44 with persistent macroalbuminuria (300mg/24h). For comparison, a control group of 55 healthy individuals was included.U-adiponectin increased with increasing levels of UAE (p0.01). U-adiponectin median (interquartile range): Normoalbuminuria 0.38 (0.14-1.31), microalbuminuria 1.1…

AdultMalemedicine.medical_specialtyEndocrinology Diabetes and MetabolismUrinary systemExcretionEndocrinologyDiabetes mellitusInternal medicineInternal MedicineMedicineAlbuminuriaHumansIn patientAgedType 1 diabetesAdiponectinbusiness.industrynutritional and metabolic diseasesMiddle Agedmedicine.diseaseUp-RegulationEndocrinologyCross-Sectional StudiesDiabetes Mellitus Type 1Healthy individualsCase-Control StudiesAlbuminuriaFemaleAdiponectinmedicine.symptombusinesshormones hormone substitutes and hormone antagonistsGlomerular Filtration Rate
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