Avon Longitudinal Study of Parents and Children
English
United Kingdom, Bristol
ALSPAC

数据描述

Avon Longitudinal Study of Parents and Children

The dataset described is the Avon Longitudinal Study of Parents and Children (ALSPAC), a research resource offering access to data and samples from a long-term cohort study. Its purpose is to support health and development research, and it contains survey data, biomedical measurements, and biological samples from participants. Researchers can request existing data and samples or collect new ones through activities like whole cohort questionnaires and clinic-based measurements, with access governed by a formal policy and an executive committee.

www.bristol.ac.uk
IP: 137.222.0.38
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相关论文

47

The role of body image dissatisfaction in the relationship between body size and disordered eating and self-harm: complimentary Mendelian randomization and mediation analyses

Grace M. PowerNaomi WarneHelen BouldFrancesco CasanovaSamuel E. Jones9
Molecular Psychiatry
2024
2024/8/13
00 p.1-11
Disordered eating and self-harm commonly co-occur in young people suggesting potential for shared underlying causes. Body image dissatisfaction (BID) has been recognised as a psychological correlate of body size, associated with both disordered eating and self-harm. However, the investigation into e...
GeneticsPsychiatric disordersPsychology
10.1038/S41380-024-02676-5
ISSN:1359-4184

A framework for conducting GWAS using repeated measures data with an application to childhood BMI

Kimberley BurrowsAnni HeiskalaJonathan P. BradfieldZhanna BalkhiyarovaLijiao Ning20
Nature Communications
2024
2024/11/20
Vol.15 No.1 p.1-18
Genetic effects on changes in human traits over time are understudied and may have important pathophysiological impact. We propose a framework that enables data quality control, implements mixed models to evaluate trajectories of change in traits, and estimates phenotypes to identify age-varying gen...
Genome-wide association studiesQuantitative traitStatistical methods
10.1038/S41467-024-53687-3
ISSN:2041-1723

Genetic associations of risk behaviours and educational achievement

Michelle Arellano SpanoTim T. MorrisNeil M. DaviesAmanda Hughes
Communications Biology
2024
2024/4/10
Vol.7 No.1 p.1-10
Risk behaviours are common in adolescent and persist into adulthood, people who engage in more risk behaviours are more likely to have lower educational attainment. We applied genetic causal inference methods to explore the causal relationship between adolescent risk behaviours and educational achie...
EpidemiologyGenetics research
10.1038/S42003-024-06091-Y
ISSN:2399-3642

Childhood body size directly increases type 1 diabetes risk based on a lifecourse Mendelian randomization approach

Richardson Tom G.Crouch Daniel J. M.Power Grace M.Morales-Berstein FernandaHazelwood Emma14
Nature Communications
2022
2022/4/28
Vol.13 No.1 p.1-9
The rising prevalence of childhood obesity has been postulated as an explanation for the increasing rate of individuals diagnosed with type 1 diabetes (T1D). In this study, we use Mendelian randomization (MR) to provide evidence that childhood body size has an effect on T1D risk (OR = 2.05 per chang...
EpidemiologyPaediatric researchRisk factorsType 1 diabetes
10.1038/S41467-022-29932-Y
ISSN:2041-1723

Genetic investigation of the association between maternal dietary patterns and offspring ADHD

Kristina AagaardCasper-Emil T. PedersenDavid HornerAnders EliasenNicklas Brustad17
Molecular Psychiatry
2026
2026/5/25
00 p.1-10
In observational studies, an unhealthy dietary pattern during pregnancy is associated with an increased likelihood of offspring ADHD. We investigated whether such associations may be partly attributable to genetic confounding. Polygenic scores (PGSs) for a healthy dietary pattern were calculated for...
ADHDGenetics
10.1038/S41380-026-03645-W
ISSN:1359-4184

Network temperature as a metric of stability in depression symptoms across adolescence

Poppy Z. GrimesAja L. MurrayKeith SmithAndrea G. AllegriniGiulia G. Piazza9
Nature Mental Health
2025
2025/4/29
00 p.1-10
Depression is characterized by diverse symptom combinations that can be represented as dynamic networks. While previous research has focused on central symptoms for targeted interventions, less attention has been given to whole-network properties. Here we show that ‘network temperature’, a novel mea...
DepressionPsychology
10.1038/S44220-025-00415-5
ISSN:2731-6076

Cumulative muscle mass and blood pressure but not fat mass drives arterial stiffness and carotid intima-media thickness progression in the young population and is unrelated to vascular organ damage

Agbaje Andrew O.Barker Alan R.Tuomainen Tomi-Pekka
Hypertension Research
2022
2022/10/14
Vol.46 No.4 p.984-999
We examined the longitudinal associations of fat mass, lean mass, and blood pressure (BP) from childhood through young adulthood with changes in carotid-femoral pulse wave velocity (cfPWV), a measure of arterial stiffness, and carotid intima-media thickness (cIMT). We included 3863 participants from...
Medicine/Public Health, generalInternal MedicinePublic HealthGeriatrics/GerontologyObstetrics/Perinatology/MidwiferyHealth Promotion and Disease Prevention
10.1038/S41440-022-01065-1
ISSN:0916-9636

Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction

Ziyi XiongYi LiXianjing LiuHaojie LuPirro G. Hysi18
Nature Communications
2025
2025/7/16
Vol.16 No.1 p.1-19
Facial appearance, one of the most recognizable and heritable human traits, exhibits substantial variation across individuals within and between populations due to its complex genetic underpinning, which remains largely elusive. Here, we report a combined genome-wide association study (C-GWAS) of 94...
3-D reconstructionEvolutionary geneticsGene ontologyGenetic variationGenome-wide association studies
10.1038/S41467-025-61761-7
ISSN:2041-1723

Mediating effect of fat mass, lean mass, blood pressure and insulin resistance on the associations of accelerometer-based sedentary time and physical activity with arterial stiffness, carotid IMT and carotid elasticity in 1574 adolescents

Andrew O. Agbaje
Journal Of Human Hypertension
2024
2024/2/26
00 p.1-11
This study examined the mediating effect of total body fat mass, lean mass, blood pressure (BP) and insulin resistance on the associations of sedentary time (ST), light physical activity (LPA) and moderate-to-vigorous PA (MVPA) with carotid-femoral pulse wave velocity (cfPWV), carotid intima-media t...
Lifestyle modificationPreventive medicine
10.1038/S41371-024-00905-6
ISSN:1476-5527

Grandmaternal smoking during pregnancy is associated with differential DNA methylation in peripheral blood of their grandchildren

Watkins Sarah HolmesIles-Caven YasminPembrey MarcusGolding JeanSuderman Matthew
European Journal Of Human Genetics
2022
2022/3/28
00 p.1-7
The idea that information can be transmitted to subsequent generation(s) by epigenetic means has been studied for decades but remains controversial in humans. Epidemiological studies have established that grandparental exposures are associated with health outcomes in their grandchildren, often with ...
DNA methylationEpidemiologyRisk factors
10.1038/S41431-022-01081-2
ISSN:1018-4813

Insights from a methylome-wide association study of antidepressant exposure

E. DavysonX. ShenF. HuiderM. J. AdamsK. Borges42
Nature Communications
2025
2025/2/24
Vol.16 No.1 p.1-15
This study tests the association of whole-blood DNA methylation and antidepressant exposure in 16,531 individuals from Generation Scotland (GS), using self-report and prescription-derived measures. We identify 8 associations and a high concordance of results between self-report and prescription-deri...
DepressionDNA methylationEpidemiologyEpigenetics and behaviourPharmacogenetics
10.1038/S41467-024-55356-X
ISSN:2041-1723

Accelerometer-based sedentary time and physical activity with MASLD and liver cirrhosis in 2684 British adolescents

Andrew O. Agbaje
Npj Gut And Liver
2024
2024/5/29
Vol.1 No.1 p.1-13
Evidence on the long-term relationship of sedentary time (ST), light physical activity (LPA) and moderate-to-vigorous PA (MVPA) with liver steatosis, fibrosis, cirrhosis, and changes in liver enzymes in the paediatric population is limited. This study examined the associations of cumulative ST, LPA ...
LiverLiver cirrhosisLiver fibrosisNon-alcoholic fatty liver diseaseNon-alcoholic steatohepatitis
10.1038/S44355-024-00002-Y
ISSN:3004-9806

Effects of accelerometer-based sedentary time and physical activity on DEXA-measured fat mass in 6059 children

Andrew O. AgbajeWei PerngTomi-Pekka Tuomainen
Nature Communications
2023
2023/12/12
Vol.14 No.1 p.1-17
Globally, childhood obesity is on the rise and the effect of objectively measured movement behaviour on body composition remains unclear. Longitudinal and causal mediation relationships of accelerometer-based sedentary time (ST), light physical activity (LPA), and moderate-to-vigorous physical activ...
EpidemiologyLifestyle modificationObesityPreventive medicineWhole body imaging
10.1038/S41467-023-43316-W
ISSN:2041-1723

Preschool musicality is associated with school-age communication abilities through genes related to rhythmicity

Lucía de HoyosEllen VerhoefAysu OkbayJanne R. VermeulenCeleste Figaroa9
Npj Science Of Learning
2025
2025/6/13
Vol.10 No.1 p.390
Early-life abilities involved in perceiving, producing and engaging with music (musicality) may shape later (social) communication and language abilities. Here, we investigate phenotypic and genetic relationships linking musicality and communication abilities by studying information from preschool a...
Human behaviourLanguageLearning and memory
10.1038/S41539-025-00329-Y
ISSN:2056-7936

DNA methylation at the suppressor of cytokine signaling 3 (SOCS3) gene influences height in childhood

Prachand IssarapuManisha ArumallaHannah R. ElliottSuraj S. NongmaithemAlagu Sankareswaran25
Nature Communications
2023
2023/8/25
Vol.14 No.1 p.1-16
Human height is strongly influenced by genetics but the contribution of modifiable epigenetic factors is under-explored, particularly in low and middle-income countries (LMIC). We investigate links between blood DNA methylation and child height in four LMIC cohorts (n = 1927) and identify a robust a...
DevelopmentDNA methylationEpigenomics
10.1038/S41467-023-40607-0
ISSN:2041-1723

Parental feeding and childhood genetic risk for obesity: exploring hypothetical interventions with causal inference methods

Herle MoritzPickles AndrewMicali NadiaAbdulkadir MohamedDe Stavola Bianca L.
International Journal Of Obesity
2022
2022/3/19
00 p.1-9
Parental-feeding behaviors are common intervention targets for childhood obesity, but often only deliver small changes. Childhood BMI is partly driven by genetic effects, and the extent to which parental-feeding interventions can mediate child genetic liability is not known. Here we aim to examine h...
DevelopmentEpidemiology
10.1038/S41366-022-01106-2
ISSN:0307-0565

Common and rare genetic variant associations with cognitive performance across development in British birth cohorts

Daniel S. MalawskyMahmoud KokoPetr DanacekWei HuangOlivia Wootton11
Nature Human Behaviour
2026
2026/7/10
00 p.1-14
Genetic variants that correlate with adult cognitive performance are also associated with rare neurodevelopmental conditions involving cognitive deficits in children. However, their association with cognition across early life remains poorly understood. Using 6,495 children from the Avon Longitudina...
Behavioural geneticsDevelopmentNeurodevelopmental disorders
10.1038/S41562-026-02491-8
ISSN:2397-3374

Distinct genetic profiles influence body mass index between infancy and adolescence

Geng WangSamuel McEwanJian ZengMekonnen Haile-MariamLoic Yengo8
Nature Communications
2026
2026/2/19
Vol.17 No.1 p.15940
Body mass index (BMI) changes throughout life with age-varying genetic contributions. We use a random regression model to investigate the genetic contribution to BMI trajectories from ages one to 18 years in 6,291 ALSPAC participants with 65,930 repeated BMI measurements. Here we show the estimated ...
Heritable quantitative traitQuantitative trait
10.1038/S41467-026-69310-6
ISSN:2041-1723

Insights into the genetic architecture of the human face

Julie D. WhiteKarlijne IndencleefSahin NaqviRyan J. EllerHanne Hoskens23
Nature Genetics
2020
2020/12/7
Vol.53 No.1 p.45-53
The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associ...
AnatomyComputational biology and bioinformaticsGenome-wide association studies
10.1038/S41588-020-00741-7
ISSN:1061-4036

Examining the role of common variants in rare neurodevelopmental conditions

Qin Qin HuangEmilie M. WigdorDaniel S. MalawskyPatrick CampbellKaitlin E. Samocha21
Nature
2024
2024/11/20
00 p.1-8
Although rare neurodevelopmental conditions have a large Mendelian component1, common genetic variants also contribute to risk2,3. However, little is known about how this polygenic risk is distributed among patients with these conditions and their parents nor its interplay with rare variants. It is ...
Behavioural geneticsDevelopment of the nervous systemGenetic variationGenetics of the nervous systemMedical genomics
10.1038/S41586-024-08217-Y
ISSN:0028-0836

A metabolic profile of all-cause mortality risk identified in an observational study of 44,168 individuals

Joris DeelenJohannes KettunenKrista FischerAshley van der SpekStella Trompet35
Nature Communications
2019
2019/8/20
Vol.10 No.1 p.1-8
Predicting longer-term mortality risk requires collection of clinical data, which is often cumbersome. Therefore, we use a well-standardized metabolomics platform to identify metabolic predictors of long-term mortality in the circulation of 44,168 individuals (age at baseline 18–109), of whom 5512 d...
MetabolomicsPredictive markers
10.1038/S41467-019-11311-9
ISSN:2041-1723

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

Min Josine L.Hemani GibranHannon EilisDekkers Koen F.Castillo-Fernandez Juan156
Nature Genetics
2021
2021/9/6
Vol.53 No.9 p.1311-1321
Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantitative trait locus (mQTL) analyses on 32,851 participants, identifying genetic variants assoc...
EpigeneticsGenetics research
10.1038/S41588-021-00923-X
ISSN:1061-4036

Genome-wide association studies of infant and toddler temperament in European and multi-ancestry populations

Anja HollowellAnna GuiEmilie WigdorMorgan J. MorganLaurie J. Hannigan34
Nature Human Behaviour
2026
2026/7/1
00 p.1-20
Early temperament, such as socio-emotional development and activity level, varies widely, yet its underlying biological associations are not understood. We identified genetic variation associated with infant and toddler temperament using genome-wide association meta-analyses. We studied parent-rated...
Behavioural geneticsHuman behaviour
10.1038/S41562-026-02486-5
ISSN:2397-3374

Common health conditions in childhood and adolescence, school absence, and educational attainment: Mendelian randomization study

Amanda HughesKaitlin H. WadeMatt DicksonFrances RiceAlisha Davies7
Npj Science Of Learning
2021
2021/1/4
Vol.6 No.1 p.1-9
Good health is positively related to children’s educational outcomes, but relationships may not be causal. Demonstrating a causal influence would strongly support childhood and adolescent health as important for education policy. We applied genetic causal inference methods to assess the causal relat...
EducationHuman behaviour
10.1038/S41539-020-00080-6
ISSN:2056-7936

Clinical, environmental, and genetic risk factors for substance use disorders: characterizing combined effects across multiple cohorts

Barr Peter B.Driver Morgan N.Kuo Sally I-ChunStephenson MalloryAliev Fazil29
Molecular Psychiatry
2022
2022/10/4
Vol.27 No.11 p.4633-4641
Substance use disorders (SUDs) incur serious social and personal costs. The risk for SUDs is complex, with risk factors ranging from social conditions to individual genetic variation. We examined whether models that include a clinical/environmental risk index (CERI) and polygenic scores (PGS) are ab...
GeneticsPredictive markers
10.1038/S41380-022-01801-6
ISSN:1359-4184

Identification of loci involved in childhood visual acuity and associations with cognitive skills and educational attainment

Judith SchmitzFilippo AbbondanzaKrzysztof MarianskiMichelle LucianoSilvia Paracchini
Npj Science Of Learning
2023
2023/7/25
Vol.8 No.1 p.1-10
Visual acuity significantly contributes to quality of life. Deficits in childhood are associated with reading difficulties, which can have detrimental effects on education outcomes. In adults, it has been observed that vision defects such as myopia are associated with higher educational attainment (...
EducationHuman behaviourObject vision
10.1038/S41539-023-00175-W
ISSN:2056-7936

Multi-ancestry genome-wide association analyses of refractive error augment genetic discovery and polygenic prediction

Fei-Fei ChengXiaoxi LiuHao MiLizhong WangRuilei Ma27
Nature Genetics
2026
2026/4/20
00 p.1-10
Refractive errors (REs) affect over half of the global population, with consequences ranging from blurred vision to blindness. Here we conducted ancestry-stratified and cross-ancestry meta-analyses of genome-wide association studies for RE in people of European (n = 1,495,159), East Asian (n = 121,1...
DiseasesGenome-wide association studies
10.1038/S41588-026-02576-0
ISSN:1061-4036

Molecular and micro-architectural mapping of gray matter alterations in psychosis

Natalia García-San-MartínRichard A. I. BethlehemAgoston MihalikJakob SeidlitzIsaac Sebenius21
Molecular Psychiatry
2024
2024/9/12
00 p.1-10
The psychosis spectrum encompasses a heterogeneous range of clinical conditions associated with abnormal brain development. Detecting patterns of atypical neuroanatomical maturation across psychiatric disorders requires an interpretable metric standardized by age-, sex- and site-effect. The molecula...
NeuroscienceSchizophrenia
10.1038/S41380-024-02724-0
ISSN:1359-4184

Parental inflammatory bowel disease and autism in children

Sadik AwsDardani ChristinaPagoni PanagiotaHavdahl AlexandraStergiakouli Evie14
Nature Medicine
2022
2022/6/2
00 p.1-6
Evidence linking parental inflammatory bowel disease (IBD) with autism in children is inconclusive. We conducted four complementary studies to investigate associations between parental IBD and autism in children, and elucidated their underlying etiology. Conducting a nationwide population-based coho...
EpidemiologyRisk factors
10.1038/S41591-022-01845-9
ISSN:1078-8956

Genetic associations with parental investment from conception to wealth inheritance in six cohorts

Jasmin WertzTerrie E. MoffittLouise ArseneaultJ. C. BarnesMichel Boivin17
Nature Human Behaviour
2023
2023/6/29
00 p.1-14
Genetic inheritance is not the only way parents’ genes may affect children. It is also possible that parents’ genes are associated with investments into children’s development. We examined evidence for links between parental genetics and parental investments, from the prenatal period through to adul...
Behavioural geneticsDevelopment studiesHuman behaviour
10.1038/S41562-023-01618-5
ISSN:2397-3374

The mental health and well-being profile of young adults using social media

Di Cara Nina H.Winstone LizzySloan LukeDavis Oliver S. P.Haworth Claire M. A.
Npj Mental Health Research
2022
2022/9/7
Vol.1 No.1 p.1-11
The relationship between mental health and social media has received significant research and policy attention. However, there is little population-representative data about who social media users are which limits understanding of confounding factors between mental health and social media. Here we p...
DepressionHuman behaviourInterdisciplinary studiesMedical researchPsychiatric disorders
10.1038/S44184-022-00011-W
ISSN:2731-4251

Social and non-social autism symptoms and trait domains are genetically dissociable

Varun WarrierRoberto ToroHyejung WonClaire S. LeblondFreddy Cliquet15
Communications Biology
2019
2019/9/3
Vol.2 No.1 p.1-13
The core diagnostic criteria for autism comprise two symptom domains – social and communication difficulties, and unusually repetitive and restricted behaviour, interests and activities. There is some evidence to suggest that these two domains are dissociable, though this hypothesis has not yet been...
Autism spectrum disordersGenetic predisposition to diseaseGenome-wide association studies
10.1038/S42003-019-0558-4
ISSN:2399-3642

Apparent latent structure within the UK Biobank sample has implications for epidemiological analysis

Simon HaworthRuth MitchellLaura CorbinKaitlin H. WadeTom Dudding13
Nature Communications
2019
2019/1/18
Vol.10 No.1 p.1-9
Large studies use genotype data to discover genetic contributions to complex traits and infer relationships between those traits. Co-incident geographical variation in genotypes and health traits can bias these analyses. Here we show that single genetic variants and genetic scores composed of multip...
EpidemiologyGenetic association studyGenome-wide association studiesPopulation genetics
10.1038/S41467-018-08219-1
ISSN:2041-1723

A blood- and brain-based EWAS of smoking

Aleksandra D. ChybowskaElena BernabeuPaul YousefiMatthew SudermanRobert F. Hillary17
Nature Communications
2025
2025/4/4
Vol.16 No.1 p.1-13
DNA methylation offers an objective method to assess the impact of smoking. In this work, we conduct a Bayesian EWAS of smoking pack years (n = 17,865, ~850k sites, Illumina EPIC array) and extend it by analysing whole genome data of smokers and non-smokers from Generation Scotland (n = 46, ~4–21 mi...
DNA methylationEpidemiologyGenome-wide association studies
10.1038/S41467-025-58357-6
ISSN:2041-1723

Precise modulation of transcription factor levels identifies features underlying dosage sensitivity

Naqvi SahinKim SeungsooHoskens HanneMatthews Harold S.Spritz Richard A.11
Nature Genetics
2023
2023/4/6
00 p.1-11
Transcriptional regulation exhibits extensive robustness, but human genetics indicates sensitivity to transcription factor (TF) dosage. Reconciling such observations requires quantitative studies of TF dosage effects at trait-relevant ranges, largely lacking so far. TFs play central roles in both no...
EpigenomicsGene expression profilingGene regulationGenetic engineeringMorphogenesis
10.1038/S41588-023-01366-2
ISSN:1061-4036

Multivariate genome-wide covariance analyses of literacy, language and working memory skills reveal distinct etiologies

Shapland Chin YangVerhoef EllenDavey Smith GeorgeFisher Simon E.Verhulst Brad7
Npj Science Of Learning
2021
2021/8/19
Vol.6 No.1 p.1-12
Several abilities outside literacy proper are associated with reading and spelling, both phenotypically and genetically, though our knowledge of multivariate genomic covariance structures is incomplete. Here, we introduce structural models describing genetic and residual influences between traits to...
CommunicationHuman behaviour
10.1038/S41539-021-00101-Y
ISSN:2056-7936

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

Peter A. PerrinoLidiya TalbotRose KirklandAmanda HillAmanda R. Rendall12
Communications Biology
2020
2020/4/20
Vol.3 No.1 p.1-14
Language development builds upon a complex network of interacting subservient systems. It therefore follows that variations in, and subclinical disruptions of, these systems may have secondary effects on emergent language. In this paper, we consider the relationship between genetic variants, hearing...
Auditory systemDevelopmentDNA sequencingHuman behaviour
10.1038/S42003-020-0885-5
ISSN:2399-3642

A genetically informed Registered Report on adverse childhood experiences and mental health

Baldwin Jessie R.Sallis Hannah M.Schoeler TabeaTaylor Mark J.Kwong Alex S. F.18
Nature Human Behaviour
2022
2022/12/8
Vol.7 No.2 p.269-290
Children who experience adversities have an elevated risk of mental health problems. However, the extent to which adverse childhood experiences (ACEs) cause mental health problems remains unclear, as previous associations may partly reflect genetic confounding. In this Registered Report, we used DNA...
GeneticsPsychology
10.1038/S41562-022-01482-9
ISSN:2397-3374

Waist-circumference-to-height-ratio had better longitudinal agreement with DEXA-measured fat mass than BMI in 7237 children

Andrew O. Agbaje
Pediatric Research
2024
2024/3/5
00 p.1-12
The absolute agreement of surrogate measures of adiposity with dual-energy X-ray absorptiometry (DEXA)-measured body composition was examined. Over a 15-year follow-up, 7237 (3667 females) nine-year-old children from the Avon Longitudinal Study of Parents and Children (ALSPAC) UK birth coh...
Medicine/Public Health, generalPediatricsPediatric Surgery
10.1038/S41390-024-03112-8
ISSN:0031-3998

An exploration into the causal relationships between educational attainment, intelligence, and wellbeing: an observational and two-sample Mendelian randomisation study

J. M. ArmitageR. E. WoottonO. S. P. DavisC. M. A. Haworth
Npj Mental Health Research
2024
2024/5/9
Vol.3 No.1 p.1-12
Educational attainment is associated with a range of positive outcomes, yet its impact on wellbeing is unclear, and complicated by high correlations with intelligence. We use genetic and observational data to investigate for the first time, whether educational attainment and intelligence are causall...
EpidemiologyGenetics researchPsychology
10.1038/S44184-024-00066-X
ISSN:2731-4251

Immunometabolic blood biomarkers of developmental trajectories of depressive symptoms: findings from the ALSPAC birth cohort

Ruby S. M. TsangDaniel StowAlex S. F. KwongNicholas A. DonnellyHolly Fraser12
Molecular Psychiatry
2025
2025/10/29
00 p.1-11
Depression is associated with immunological and metabolic alterations, but immunometabolic characteristics of developmental trajectories of depressive symptoms remain unclear. Studies of longitudinal trends of depressive symptoms in young people could provide insight into aetiological mechanisms and...
BiomarkersDepression
10.1038/S41380-025-03311-7
ISSN:1359-4184

Polygenic prediction of body mass index and obesity through the life course and across ancestries

Roelof A. J. SmitKaitlin H. WadeQin HuiJoshua D. AriasXianyong Yin627
Nature Medicine
2025
2025/7/21
00 p.1-18
Polygenic scores (PGSs) for body mass index (BMI) may guide early prevention and targeted treatment of obesity. Using genetic data from up to 5.1 million people (4.6% African ancestry, 14.4% American ancestry, 8.4% East Asian ancestry, 71.1% European ancestry and 1.5% South Asian ancestry) from the ...
ObesityPredictive markers
10.1038/S41591-025-03827-Z
ISSN:1078-8956

Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci

Tom DuddingSimon HaworthPenelope A. LindJ. Fah SathirapongsasutiJoyce Y. Tung15
Nature Communications
2019
2019/3/5
Vol.10 No.1 p.1-12
Mouth ulcers are the most common ulcerative condition and encompass several clinical diagnoses, including recurrent aphthous stomatitis (RAS). Despite previous evidence for heritability, it is not clear which specific genetic loci are implicated in RAS. In this genome-wide association study (n = 461...
Aphthous stomatitisDisease geneticsEpidemiologyGenome-wide association studies
10.1038/S41467-019-08923-6
ISSN:2041-1723

Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites

Elmira EbrahimiApiwat SangphukieoHanla A. ParkValerie GaborieauAida Ferreiro-Iglesias53
Nature Communications
2025
2025/10/2
Vol.16 No.1 p.1-18
Head and neck squamous cell carcinoma (HNSCC) includes diverse cancers arising in the oral cavity, oropharynx, and larynx, with the main risk factors being environmental exposures such as tobacco, alcohol, and human papillomavirus (HPV) infection. The genetic factors contributing to susceptibility a...
Cancer geneticsHead and neck cancer
10.1038/S41467-025-63842-Z
ISSN:2041-1723

DNA methylation mediates the link between adversity and depressive symptoms

Alexandre A. LussierBrooke J. SmithJonah FisherMannan LuoJanine Cerutti18
Nature Mental Health
2024
2024/12/2
00 p.1-10
Experiences of childhood adversity can double the risk for depression. Although the mechanisms underlying this relationship remain unclear, DNA methylation (DNAm) has emerged as a potential pathway to explain the link between adversity and depression. We thus investigated whether epigenome-wide DNAm...
DepressionEpigenomicsRisk factors
10.1038/S44220-024-00345-8
ISSN:2731-6076

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

Michiel VannesteHanne HoskensSeppe GoovaertsHarold MatthewsJay Devine17
Nature Communications
2024
2024/12/2
Vol.15 No.1 p.1-13
Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a s...
Genetic variationGenome-wide association studiesHeritable quantitative trait
10.1038/S41467-024-54839-1
ISSN:2041-1723

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus

Krista FreimannAnneke BrümmerRobert WarmerdamTarran S. RupallAna Laura Hernández-Ledesma20
Nature Communications
2025
2025/10/2
Vol.16 No.1 p.1-15
Although genome-wide association studies have provided valuable insights into the genetic basis of complex traits and diseases, translating these findings to causal genes and their downstream mechanisms remains challenging. We performed trans expression quantitative trait locus (trans-eQTL) meta-ana...
Gene regulationGene regulatory networksImmunogeneticsTranscriptomics
10.1038/S41467-025-63856-7
ISSN:2041-1723