0000000000357025

AUTHOR

Suna Onengut-gumuscu

showing 3 related works from this author

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

2013

To access publisher's full text version of this article click on the hyperlink at the bottom of the page Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci sh…

Linkage disequilibriumHISTONE DEACETYLASEGenotyping Techniquesendocrine system diseasesGenome-wide association studyDiseaseBioinformaticsLinkage Disequilibrium0302 clinical medicineGene FrequencyRisk FactorsOligonucleotide Array Sequence Analysis0303 health sciencesCrohn's diseaseeducation.field_of_studydigestive oral and skin physiologyCELIAC-DISEASEGenetic PleiotropyLifrarsjúkdómar3. Good healthFALSE DISCOVERY RATEULCERATIVE-COLITISgenetic association studydisease genetics030211 gastroenterology & hepatologySUSCEPTIBILITY LOCIPopulationCholangitis SclerosingSingle-nucleotide polymorphismHuman leukocyte antigenGENETIC RISKBiologyliverPolymorphism Single Nucleotidedigestive systemArticlePrimary sclerosing cholangitis03 medical and health sciencesFUNCTIONAL SIMILARITYGeneticsmedicineHumansGENOME-WIDE ASSOCIATIONeducation030304 developmental biologyNATURAL-HISTORYArfgengimedicine.diseasedigestive system diseasesimmunogeneticsGenetic LociCase-Control StudiesImmunologyGenome-Wide Association StudyINFLAMMATORY-BOWEL-DISEASE
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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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