Paul R. H. J. Timmers
A5062131622- Genetic Associations and Epidemiology
- Metabolomics and Mass Spectrometry Studies
- Epigenetics and DNA Methylation
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Nutrition, Genetics, and Disease
- Genetic Mapping and Diversity in Plants and Animals
- Genetics, Aging, and Longevity in Model Organisms
- Cancer-related molecular mechanisms research
- Folate and B Vitamins Research
- Lipid metabolism and disorders
- Birth, Development, and Health
- Bioinformatics and Genomic Networks
- Liver Disease Diagnosis and Treatment
- interferon and immune responses
- Genetic and phenotypic traits in livestock
- RNA Research and Splicing
- Health, Environment, Cognitive Aging
- Asthma and respiratory diseases
- COVID-19 Clinical Research Studies
- Cancer, Lipids, and Metabolism
- Genetics and Neurodevelopmental Disorders
- Reproductive Biology and Fertility
- Cancer-related Molecular Pathways
- Health disparities and outcomes
- Global Cancer Incidence and Screening
University of Edinburgh
2017-2025
Institute of Genetics and Cancer
2021-2025
Medical Research Council
2021-2025
Centre for Global Health Research
2018-2024
Western General Hospital
2021-2024
Center for Global Health
2021
University of Bristol
2018-2020
European Commission
2002
We use a genome-wide association of 1 million parental lifespans genotyped subjects and data on mortality risk factors to validate previously unreplicated findings near CDKN2B-AS1, ATXN2/BRAP, FURIN/FES, ZW10, PSORS1C3, 13q21.31, identify replicate novel ABO, ZC3HC1, IGF2R. also previous 5q33.3/EBF1 FOXO3, whilst finding contradictory evidence at other loci. Gene set cell-specific analyses show that expression in foetal brain cells adult dorsolateral prefrontal cortex is enriched for...
BackgroundGenetic factors influence chronic obstructive pulmonary disease (COPD) risk, but the individual variants that have been identified small effects. We hypothesised a polygenic risk score using additional would predict COPD and associated phenotypes.MethodsWe constructed genome-wide association study of lung function (FEV1 FEV1/forced vital capacity [FVC]) from UK Biobank SpiroMeta. tested this in nine cohorts multiple ethnicities for an with moderate-to-severe (defined as FEV1/FVC...
Abstract Humans vary substantially in their willingness to take risks. In a combined sample of over one million individuals, we conducted genome-wide association studies (GWAS) general risk tolerance, adventurousness, and risky behaviors the driving, drinking, smoking, sexual domains. We identified 611 approximately independent genetic loci associated with at least our phenotypes, including 124 tolerance. report evidence substantial shared influences across tolerance behaviors: 72 contain...
Abstract The timing of puberty is highly variable and associated with long-term health outcomes. To date, understanding the genetic control based largely on studies in women. Here, we report a multi-trait genome-wide association study for male an effective sample size 205,354 men. We find moderately strong genomic correlation between sexes (rg = 0.68) identify 76 independent signals timing. Implicated mechanisms include unexpected link natural hair colour, possibly reflecting common effects...
Length and quality of life are important to us all, yet identification promising drug targets for human aging using genetics has had limited success. In the present study, we combine six European-ancestry genome-wide association studies traits—healthspan, father mother lifespan, exceptional longevity, frailty index self-rated health—in a principal component framework that maximizes their shared genetic architecture. The first (aging-GIP1) captures both length indices mental physical...
Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for 19 severity. Four of these 23 likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals 11 colocalize expression quantitative trait (eQTLs) associated the 20 genes 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, skin as well...
To investigate the associations across genetic and lifestyle factors with lifespan.
Abstract Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) intracranial volume (ICV). The underlying genetic influences shaping these during transition from childhood to adulthood are little understood, but might include both age-specific factors low-frequency variation. Here, we model developmental architecture HC, showing this genetically stable correlated with determinants ICV. Investigating up 46,000 children adults...
Bone marrow adipose tissue (BMAT) is a normal feature of mammalian anatomy that increases with ageing and in osteoporosis, type 2 diabetes, other diverse clinical contexts. However, the full scope diseases associated altered bone adiposity remains to be determined, whether BMAT directly contributes human disease unknown. To address these critical gaps knowledge, we previously used deep learning measure fat fraction (BMFF) femoral head, total hip, diaphysis, spine over 44,000 participants UK...
The enormous mammal's lifespan variation is the result of each species' adaptations to their own biological trade-offs and ecological conditions. Comparative genomics have demonstrated that genomic factors underlying both, species lifespans longevity individuals, are in part shared across tree life. Here, we compared protein-coding regions mammalian phylogeny detect individual amino acid (AA) changes by most long-lived mammals genes whose rates protein evolution correlate with longevity. We...
Abstract We performed the largest genome-wide meta-analysis (GWAMA) (Max N=26,494) of levels 184 cardiovascular-related plasma protein to date and reported 592 independent loci (pQTL) associated with level at least one (1308 significant associations, median 6 per protein). estimated that only between 8-37% testable pQTL overlap established expression quantitative trait (eQTL) using multiple methods, while 132 out 1064 lead variants show evidence for transcription factor binding, found 75%...
We propose a novel effective framework for the analysis of shared genetic background set genetically correlated traits using SNP-level GWAS summary statistics. This called SHAHER is based on construction linear combination by maximizing proportion its variance explained factors. requires only full statistics and matrices phenotypic correlations between as inputs. Our allows both unshared factors to be effectively analyzed. tested our simulation studies, compared it with previous...
Abstract Genetically predicted levels of multi-omic traits can uncover the molecular underpinnings common phenotypes in a highly efficient manner. Here, we utilised large cohort (INTERVAL; N=50,000 participants) with extensive data for plasma proteomics (SomaScan, N=3,175; Olink, N=4,822), metabolomics (Metabolon HD4, N=8,153), serum (Nightingale, N=37,359), and whole blood Illumina RNA sequencing (N=4,136). We used machine learning to train genetic scores 17,227 traits, including 10,521...