0000000000461004

AUTHOR

Nicola Pirastu

showing 4 related works from this author

SNPs associated withHHIPexpression have differential effects on lung function in males and females

2019

AbstractAdult lung function is highly heritable and 279 genetic loci were recently reported as associated with spirometry-based measures of lung function. Though lung development and function differ between males and females throughout life, there has been no genome-wide study to identify genetic variants with differential effects on lung function in males and females. Here, we present the first genome-wide genotype-by-sex interaction study on four lung function traits in 303,612 participants from the UK Biobank. We detected five SNPs showing genome-wide significant (P<5 × 10−8) interactions with sex on lung function, as well as 21 suggestively significant interactions (P<1 × 10−6). T…

Spirometry0303 health sciencesCOPDmedicine.medical_specialtyLungmedicine.diagnostic_testSingle-nucleotide polymorphismBiologymedicine.disease03 medical and health sciences0302 clinical medicinemedicine.anatomical_structureEndocrinology030228 respiratory systemInternal medicinemedicineSNPAlleleBeta (finance)Lung function030304 developmental biology
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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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Variants associated with HHIP expression have sex-differential effects on lung function

2021

Background: Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females. Methods: We tested for interactions between 7,745,864 variants and sex on spirometry-based measures of lung function in UK Biobank (N=303,612), and sought replication in 75,696 independent individuals from the SpiroMeta consortium. Results: Five independent single-nucleotide polymorphisms (SNPs) showed genome-wide significant (P<5x10-8) interactions with sex …

0301 basic medicineSpirometrymedicine.medical_specialtyHHIPMedicine (miscellaneous)Expression ; Genome-wide Interaction Study ; Hhip ; Lung Function ; SexSingle-nucleotide polymorphismBiology3121 Internal medicineGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineExpression ; Genome-wide interaction study ; HHIP ; Lung function ; SexInternal medicineexpressionmedicinesexAlleleEnhancerGeneLung functionLunggenome-wide interaction studymedicine.diagnostic_test1184 Genetics developmental biology physiologylung functionALSPAC/dk/atira/pure/core/keywords/alspacDifferential effects030104 developmental biologyEndocrinologymedicine.anatomical_structure030228 respiratory system3121 General medicine internal medicine and other clinical medicine3111 Biomedicine
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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary …

2023

Funder: British Lung Foundation (BLF); doi: https://doi.org/10.13039/501100000351

hengityselimetgenome-wide association studiesperimä/631/208/205/2138/45/43articlekeuhkosairaudethengityselinten tauditriskitekijät/692/699/1785keuhkotperinnöllisyysrespiratory tract diseases
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