0000000000851941

AUTHOR

Pankaj Sharma

showing 3 related works from this author

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

2013

Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. We further characterized these loci for associations with gout, transcript expression and the fractional…

Candidate geneInhibins/geneticsGenome-wide association studyGENETIC-LOCIchemistry.chemical_compound0302 clinical medicineserum urateGene FrequencyGout/bloodassociation analysis serum urateGlucose/metabolismSettore MED/14 - NEFROLOGIAHyperuricemiaserum; urate; genePOPULATIONMETABOLIC SYNDROMEGenetics0303 health scienceseducation.field_of_studybiologyPolymorphism Single Nucleotide/genetics3. Good healthHYPERURICEMIAGenetic Loci/genetics/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingSLC22A12Single Nucleotide/geneticsSNPsSignal TransductionMOLECULAR PHYSIOLOGYserum urate concentrations gout genome-wide meta-analysisEuropean Continental Ancestry GroupPopulationPolymorphism Single NucleotideWhite PeopleUric Acid/bloodserum urate concentrationsgenome-wide meta-analysis03 medical and health sciencesSDG 3 - Good Health and Well-beinguric acidGeneticsmedicineHumansInhibinsPolymorphismeducation030304 developmental biology030203 arthritis & rheumatologyAnalysis of VarianceGOUTIDENTIFICATIONTRANSPORTERCARDIOVASCULAR-DISEASE RISKta3121medicine.diseaseassociation analysisGoutmeta-analysisGlucosechemistryGenetic Locigenome-wide association studiesbiology.proteinSignal Transduction/geneticsUric acidURIC-ACID LEVELSGenome-Wide Association StudySLC2A9
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

2016

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation o…

0301 basic medicineNephrologyGenetics and Molecular Biology (all)estimated glomerular filtration rateestimated glomerular filtration rate chronic kidney disease genetic determinantsGeneral Physics and AstronomyKidney developmentGenome-wide association studyBiochemistrySettore MED/14 - NEFROLOGIARenal InsufficiencyChronicGeneticsAGEN Consortiumddc:616education.field_of_studyKidneyStage renal-diseaseMultidisciplinaryGenome-wide associationCHARGe-Heart Failure GroupGene Expression Regulation; Genome-Wide Association Study; Genotype; Humans; Renal Insufficiency Chronic; Genetic Predisposition to Disease; Biochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)QChemistry (all)MetaanalysisGene Expression Regulation; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Renal Insufficiency Chronic/geneticsBiological sciencesSerum creatininemedicine.anatomical_structureEfficientRonyons -- FisiologiaHypertensionICBP ConsortiumTransmembrane transporter activitygenetic association loci kidney functionCARDIOGRAMHumanmedicine.medical_specialtyGenotypeSciencePopulationRenal functionECHOGen ConsortiumReplicationBiologyEnvironmentResearch SupportGeneral Biochemistry Genetics and Molecular BiologyN.I.H.genetic determinants03 medical and health sciencesPhysics and Astronomy (all)GENOME-WIDE ASSOCIATION ; FALSE DISCOVERY RATES ; STAGE RENAL-DISEASE ; SERUM CREATININE ; METAANALYSIS ; VARIANTS ; INDIVIDUALS ; POPULATION ; RISK ; HYPERTENSIONKidney functionResearch Support N.I.H. ExtramuralInternal medicineMD MultidisciplinarymedicineGeneticsJournal ArticleHumanseGFRcrea; eGFRcysGenetic Predisposition to Diseaseddc:610GenetikRenal Insufficiency ChronicMortalityeducationddc:613Biochemistry Genetics and Molecular Biology (all)urogenital systemIndividualsExtramuralGeneral Chemistryta3121medicine.diseaseR1030104 developmental biologyGene Expression RegulationBiochemistry Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)570 Life sciences; biologyGenèticachronic kidney diseaseKidney diseaseGenome-Wide Association StudyMeta-Analysis
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Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection

2014

Item does not contain fulltext Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively uncommon in the general population (incidence of 2.6/100,000 per year). Minor cervical traumas, infection, migraine and hypertension are putative risk factors, and inverse associations with obesity and hypercholesterolemia are described. No confirmed genetic susceptibility factors have been identified using candidate gene approaches. We performed genome-wide association studies (GWAS) in 1,393 CeAD cases and 14,416 controls. The rs9349379[G] allele (PHACTR1) was associated with lower CeAD risk (odds ratio…

Male[SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyMyocardial InfarctionGenome-wide association studyCarotid Artery Internal DissectionGastroenterologyepidemiology [Carotid Artery Internal Dissection]Brain Ischemia0302 clinical medicineMigraine DisorderOdds RatioFinlandVertebral Artery Dissection0303 health scienceseducation.field_of_studyepidemiology [Hypercholesterolemia]MESH: Middle AgedMESH: Polymorphism Single NucleotidePhactr-1 protein humanMESH: Brain IschemiaMESH: Follow-Up Studies3. Good healthMESH: Myocardial InfarctionHumanmedicine.medical_specialtyMigraine DisordersHypercholesterolemiaMESH: Vertebral Artery DissectionLower riskgenetics [Brain Ischemia]ArticleFollow-Up StudieMESH: Carotid Artery Internal Dissection03 medical and health sciencesGeneticSDG 3 - Good Health and Well-beinggenetics [Carotid Artery Internal Dissection]GeneticsGenetic predispositionepidemiology [Brain Ischemia]Humansepidemiology [Vertebral Artery Dissection]PolymorphismeducationAllelesMESH: Humansgenetics [Vertebral Artery Dissection]MESH: AdultOdds ratioMicrofilament Proteinmedicine.diseaseAdult; Brain Ischemia; Carotid Artery Internal Dissection; Female; Finland; Follow-Up Studies; Genetic Pleiotropy; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Hypercholesterolemia; Hypertension; Male; Microfilament Proteins; Middle Aged; Migraine Disorders; Myocardial Infarction; Obesity; Odds Ratio; Risk Factors; Vertebral Artery Dissection; Alleles; Polymorphism Single NucleotideMESH: Genome-Wide Association StudyCarotid ArteryMESH: Female030217 neurology & neurosurgeryepidemiology [Finland]Cervical ArteryVertebral artery dissectionepidemiology [Hypertension]MESH: HypertensionRisk FactorsMESH: Risk FactorsMESH: ObesityStrokeAlleleGeneticsDissectionMESH: FinlandMicrofilament ProteinsMESH: Genetic Predisposition to DiseaseMESH: HypercholesterolemiaGenetic PleiotropySingle NucleotideMiddle AgedMESH: Migraine DisordersDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]epidemiology [Myocardial Infarction][INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV]HypertensionFemale[SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processingAdultPopulationMESH: Genetic Pleiotropyphysiology [Microfilament Proteins]BiologyPolymorphism Single NucleotideMESH: Microfilament ProteinsInternal medicineddc:570medicine[INFO.INFO-IM]Computer Science [cs]/Medical ImagingGenetic Predisposition to DiseaseObesity030304 developmental biologyepidemiology [Obesity]Risk FactorMESH: Alleles[INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV]InternalMESH: Odds RatioMESH: Maleepidemiology [Migraine Disorders]genetics [Microfilament Proteins]Follow-Up StudiesGenome-Wide Association Study
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