0000000000419631

AUTHOR

Maksim Struchalin

showing 5 related works from this author

A Genome-Wide Screen for Interactions Reveals a New Locus on 4p15 Modifying the Effect of Waist-to-Hip Ratio on Total Cholesterol

2011

Recent genome-wide association (GWA) studies described 95 loci controlling serum lipid levels. These common variants explain ∼25% of the heritability of the phenotypes. To date, no unbiased screen for gene–environment interactions for circulating lipids has been reported. We screened for variants that modify the relationship between known epidemiological risk factors and circulating lipid levels in a meta-analysis of genome-wide association (GWA) data from 18 population-based cohorts with European ancestry (maximum N = 32,225). We collected 8 further cohorts (N = 17,102) for replication, and rs6448771 on 4p15 demonstrated genome-wide significant interaction with waist-to-hip-ratio (WHR) on …

Netherlands Twin Register (NTR)Adipose Tissue/metabolismAdipose Tissue/metabolism; Body Fat Distribution; Cadherins/genetics; Cholesterol/blood; Cholesterol/genetics; Chromosome Mapping; Chromosomes Human Pair 4/genetics; European Continental Ancestry Group/genetics; Genome-Wide Association Study; Genotype; Humans; Lipids/blood; Lipids/genetics; Lipoproteins/blood; Lipoproteins/genetics; Phenotype; Polymorphism Single Nucleotide; Quantitative Trait Loci/genetics; Risk Factors; Triglycerides/blood; Triglycerides/genetics; Waist-Hip RatioGenome-wide association study0302 clinical medicineGenetics(clinical)AetiologyEuropean Continental Ancestry Group/genetics0303 health scienceseducation.field_of_studyta3141ta3142ASSOCIATIONCadherinsLipids3. Good healthTriglycerides/bloodCholesterolAdipose TissueDENSITY-LIPOPROTEIN CHOLESTEROLTRIGLYCERIDEChromosomes Human Pair 4SMOKING/dk/atira/pure/subjectarea/asjc/1100/1105Human/dk/atira/pure/subjectarea/asjc/1300/1311/dk/atira/pure/subjectarea/asjc/1300/1312GenotypeLipoproteinseducationEuropean Continental Ancestry GroupQuantitative Trait LociLocus (genetics)Cholesterol/bloodWhite People03 medical and health sciencesSDG 3 - Good Health and Well-beingClinical ResearchGenome-Wide Association StudiesGeneticsHumansPolymorphismeducationBiologyMolecular BiologyPOLYMORPHISMSEcology Evolution Behavior and Systematics0604 GeneticsHDL CHOLESTEROLScience & TechnologyCadherins/geneticsChromosomes Human Pair 4/geneticsQuantitative Trait Loci/geneticsDensity-lipoprotein cholesterol; HDL chloesterol; Association; Gene; Smoking; Plasma; Triglyeride; Obesity; Lipids; PolymorphismsDevelopmental BiologyCancer Research030204 cardiovascular system & hematologyWaist–hip ratioRisk FactorsGenotype2.1 Biological and endogenous factorsBody Fat DistributionGENETICS & HEREDITYGenetics (clinical)GeneticsPLASMAChromosome MappingSingle NucleotideENGAGE ConsortiumPair 4/geneticsPhenotypePair 4OBESITY/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being/dk/atira/pure/subjectarea/asjc/1300/1306Life Sciences & BiomedicineResearch ArticleLIPIDSlcsh:QH426-470PopulationQuantitative trait locusBiologyPolymorphism Single NucleotideChromosomes/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Lipoproteins/bloodgene ; waist-to-hip ratio ; cholesterolAlleleTriglycerides030304 developmental biologyWhitesLipids/bloodWaist-Hip RatioHuman GenomeHuman Genetics/dk/atira/pure/subjectarea/asjc/2700/2716HeritabilityGENEProtocadherinslcsh:Genetics3111 BiomedicineGenome-Wide Association StudyPLoS Genetics
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Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.

2009

Context Echocardiographic measures of left ventricular (LV) structure and function are heritable phenotypes of cardiovascular disease. Objective To identify common genetic variants associated with cardiac structure and function by conducting a meta-analysis of genome-wide association data in 5 population-based cohort studies (stage 1) with replication (stage 2) in 2 other community-based samples. Design, Setting, and Participants Within each of 5 community-based cohorts comprising the EchoGen consortium (stage 1; n = 12 612 individuals of European ancestry; 55% women, aged 26-95 years; examinations between 1978-2008), we estimated the association between approximately 2.5 million single-nuc…

AdultMalemedicine.medical_specialtyPathologyGenotypeHeart VentriclesPopulationLocus (genetics)Genome-wide association studySingle-nucleotide polymorphismPolymorphism Single NucleotideVentricular Function LeftWhite PeopleArticleVentricular Dysfunction LeftSDG 3 - Good Health and Well-beingRisk FactorsInternal medicineMedicineHumansHeart AtriaInternational HapMap ProjecteducationAortaAgedAged 80 and overeducation.field_of_studybusiness.industryGeneral MedicineOrgan SizeMiddle AgedPhenotypeCardiovascular DiseasesEchocardiographyMeta-analysisCohortCardiologyFemalebusinessCohort studyGenome-Wide Association StudyJAMA
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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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New loci associated with kidney function and chronic kidney disease

2010

Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea 60 ml/min/1.73 m 2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P 5 × 10 8) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or…

medicine.medical_specialtyGENOME-WIDE ASSOCIATION ; SERUM CREATININE ; PROTEIN ; GENE ; MUTATIONS ; VARIANTS ; POPULATION ; CANDIDATE ; HOMOLOG ; MEGALINPopulationRenal functionGenome-wide association studyBiologyKidneyurologic and male genital diseasesCohort Studieschemistry.chemical_compoundSDG 3 - Good Health and Well-beingRisk FactorsInternal medicineGenetic MarkermedicineGeneticsHumansCystatin CeducationCystatin C/geneticsddc:616Genetic Markers/geneticsCreatinineKidneyeducation.field_of_studyModels GeneticRisk Factorchronic kidney disease; loci; SNPCreatinine/bloodmedicine.diseaseDietEuropeKidney/*physiologyEndocrinologymedicine.anatomical_structurechemistryCystatin CRenal physiologyCreatininebiology.proteinKidney Failure ChronicKidney Failure Chronic/ethnology/*geneticsCohort StudieKidney diseaseHumanGenome-Wide Association StudyGlomerular Filtration Rate
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