0000000000391342

AUTHOR

Luca A. Lotta

showing 2 related works from this author

Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

2020

Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1, PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank p…

Netherlands Twin Register (NTR)LimfomesLOCIGenome-wide association studyDiseaseVARIANTSDISEASE0302 clinical medicineLeukocytestelomere lengthGWASGenetics(clinical)CàncerMendelian randomisationThyroid cancerGenetics (clinical)11 Medical and Health SciencesCancerGeneticsGenetics & HeredityRISK0303 health sciencesTelòmerage-related disease; biological aging; Mendelian randomisation; telomere length; Humans; Leukocytes; Nucleotides; Genome-Wide Association Study; TelomereNucleotidesmeta-analyysigenomiikkaGenomicsTelomereCANCER3. Good health030220 oncology & carcinogenesisbiological agingMENDELIAN RANDOMIZATION/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingMedical geneticsBiomarker (medicine)HEARTLymphomasLife Sciences & BiomedicineMedical Geneticsmedicine.medical_specialtyGENESDATABASEAge-related Disease ; Biological Aging ; Mendelian Randomisation ; Telomere LengthBiologyArticle03 medical and health sciencesSDG 3 - Good Health and Well-beingMendelian randomization/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineGeneticsJournal ArticleHumans030304 developmental biologyMedicinsk genetikage-related diseaseScience & TechnologyCancer06 Biological Sciencesmedicine.diseaseTelomereGenòmicaikääntyminen1182 Biochemistry cell and molecular biologytelomeeritbiologicalGenome-Wide Association Study
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An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

2021

[BACKGROUND & AIMS] Primary biliary cholangitis (PBC) is a chronic liver disease in which autoimmune destruction of the small intra-hepatic bile ducts eventually leads to cirrhosis. Many patients have inadequate response to licensed medications, motivating the search for novel therapies. Previous genome-wide association studies (GWAS) and meta-analyses (GWMA) of PBC have identified numerous risk loci for this condition, providing insight into its aetiology. We undertook the largest GWMA of PBC to date, aiming to identify additional risk loci and prioritise candidate genes for in silico drug efficacy screening. [METHODS] We combined new and existing genotype data for 10, 516 cases and 20, 77…

Liver CirrhosisALSPAC; ERN RARE-LIVER; Genomic co-localization; Network-based in silico drug efficacy screening; UK-PBC0301 basic medicineCandidate geneALSPAC; ERN RARE-LIVER; Genomic co-localization; Network-based in silico drug efficacy screening; UK-PBC; Genome-Wide Association Study; Humans; Liver Cirrhosis BiliaryItalian PBC Study GroupLD SCORE REGRESSIONJapan-PBC-GWAS ConsortiumGenome-wide association studyLocus (genetics)DiseaseSUSCEPTIBILITYPBCChronic liver diseaseBioinformaticsGENETIC ASSOCIATION1117 Public Health and Health Services03 medical and health sciences0302 clinical medicineUK-PBC ConsortiumGenotypeHumansMedicineNetwork-based in silico drug efficacy screeningGenetic associationScience & TechnologyGastroenterology & HepatologyHepatologyLiver Cirrhosis Biliarybusiness.industryBiliaryChinese PBC Consortium1103 Clinical SciencesALSPACmedicine.diseasePBC Consortia030104 developmental biologyMeta-analysisERN RARE LIVER030211 gastroenterology & hepatologyGenomic co-localizationUK-PBCUS PBC ConsortiumERN RARE-LIVERCanadian PBC ConsortiumbusinessLife Sciences & BiomedicineGenome-Wide Association StudyHuman
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