0000000000312751

AUTHOR

Arnulf Langhammer

showing 4 related works from this author

Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research

2015

A wealth of biospecimen samples are stored in modern globally distributed biobanks. Biomedical researchers worldwide need to be able to combine the available resources to improve the power of large-scale studies. A prerequisite for this effort is to be able to search and access phenotypic, clinical and other information about samples that are currently stored at biobanks in an integrated manner. However, privacy issues together with heterogeneous information systems and the lack of agreed-upon vocabularies have made specimen searching across multiple biobanks extremely challenging. We describe three case studies where we have linked samples and sample descriptions in order to facilitate glo…

0301 basic medicineNetherlands Twin Register (NTR)Databases FactualComputer scienceInformation Storage and RetrievalSample (statistics)Ontology (information science)Endocrinology and DiabetesBioinformaticscomputer.software_genredata archivesArticle03 medical and health sciencesSDG 17 - Partnerships for the GoalsSDG 3 - Good Health and Well-beingGenetics/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_Use casebiomedical dataGenetics (clinical)Biological Specimen BanksGenetics & Heredity0604 GeneticsBioinformatics (Computational Biology)ta112ta1184/dk/atira/pure/sustainabledevelopmentgoals/partnershipsData scienceBiobank3. Good healthcross-biotank research030104 developmental biologyProject planningExchange of informationDisparate systemPrivacyBioinformatik (beräkningsbiologi)/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingclinical datacomputerData integrationEuropean Journal of Human Genetics
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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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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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