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Record W3096966615 · doi:10.1016/j.xhgg.2020.100013

Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits

2020· article· en· W3096966615 on OpenAlexaff
Daokun Sun, Melissa A. Richard, Solomon K. Musani, Thomas W. Winkler, Karen Schwander, Jin Fang Chai, Xiuqing Guo, Tuomas O. Kilpeläinen, Dina Vojinović, Hugues Aschard, Traci M. Bartz, Lawrence F. Bielak, Michael R. Brown, Kumaraswamy Naidu Chitrala, Fernando Pires Hartwig, Andréa R. V. R. Horimoto, Alisa K. Manning, Raymond Noordam, Albert V. Smith, Sarah E. Harris, Brigitte Kühnel, Leo‐Pekka Lyytikäinen, Ilja M. Nolte, Rainer Rauramaa, Peter J. van der Most, Erin B. Ware, Stefan Weiß, Wanqing Wen, Lisa R. Yanek, Dan E. Arking, Donna K. Arnett, Ana Barac, Eric Boerwinkle, Ulrich Broeckel, Aravinda Chakravarti, Yii‐Der Ida Chen, L. Adrienne Cupples, Martha L. Davigulus, Lisa de las Fuentes, Renée de Mutsert, Paul S. de Vries, Joseph A. Delaney, Ana V. Diez Roux, Marcus Dörr, Jessica D. Faul, Amanda M. Fretts, Linda C. Gallo, Hans J. Grabe, C. Charles Gu, Tamara B. Harris, Catharina C.A. Hartman, Sami Heikkinen, M. Arfan Ikram, Carmen R. Isasi, W. Craig Johnson, Jost B. Jonas, Robert C. Kaplan, Pirjo Komulainen, José Eduardo Krieger, Daniel Levy, Jianjun Liu, Kurt Lohman, Annemarie I. Luik, Lisa W. Martin, Thomas Meitinger, Yuri Milaneschi, Jeff O’Connell, Walter R. Palmas, Annette Peters, Patricia A. Peyser, Laura Pulkki-Råbäck, Leslie J. Raffel, Alex P. Reiner, Kenneth Rice, Jennifer G. Robinson, Frits R. Rosendaal, Carsten Oliver Schmidt, Pamela J. Schreiner, Lars Schwettmann, James M. Shikany, Xiao‐Ou Shu, Stephen Sidney, Mario Sims, Jennifer A. Smith, Nona Sotoodehnia, Konstantin Strauch, E Shyong Tai, Kent D. Taylor, André G. Uitterlinden, Cornelia M. van Duijn, Mélanie Waldenberger, Hwee Lin Wee, Wenbin Wei, Gregory Wilson, Xuan Deng, Jie Yao, Donglin Zeng, Wei Zhao, Xiaofeng Zhu, Alan B. Zonderman, Diane M. Becker, Ian J. Deary, Christian Gieger, Timo A. Lakka, Terho Lehtimäki, Kari E. North, Albertine J. Oldehinkel, Brenda W.J.H. Penninx, Harold Snieder, Ya Xing Wang, David R. Weir, Wei Zheng, Michele K. Evans, W. James Gauderman, Vilmundur Guðnason, Bernardo Lessa Horta, Ching‐Ti Liu, Dennis O. Mook‐Kanamori, Alanna C. Morrison, Alexandre C. Pereira, Bruce M. Psaty, Najaf Amin, Ervin R. Fox, Charles Kooperberg, Xueling Sim, Laura Bierut, Jerome I. Rotter, Sharon L.R. Kardia, Nora Franceschini, D. C. Rao, Myriam Fornage

Bibliographic record

VenueHuman Genetics and Genomics Advances · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversity of Manitoba
FundersNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteErasmus Universitair Medisch Centrum RotterdamUniversity of California, IrvineSchool of Medicine, University of Alabama at BirminghamNational Institutes of HealthAmsterdam NeuroscienceKuopion Yliopistollinen SairaalaHáskóli ÍslandsTampereen YliopistoLeids Universitair Medisch CentrumUniversiteit LeidenVrije Universiteit AmsterdamUniversity of OxfordKaiser Permanente Washington Health Research InstituteCapital Medical UniversityWashington University in St. LouisDeutsches Zentrum für Herz-KreislaufforschungUniversity of WashingtonHelsingin YliopistoNational University of SingaporeItä-Suomen YliopistoKaiser PermanenteUniversity of MinnesotaCase Western Reserve UniversityJackson State UniversityUniversity of Southern California
KeywordsPsychosocialGenome-wide association studyBlood pressureAnxietyGeneGeneticsBiologyPulse pressureGenetic associationPsychologyClinical psychologyPsychiatrySingle-nucleotide polymorphismEndocrinologyGenotype

Abstract

fetched live from OpenAlex

Psychological and social factors are known to influence blood pressure (BP) and risk of hypertension and associated cardiovascular diseases. To identify novel BP loci, we carried out genome-wide association meta-analyses of systolic, diastolic, pulse, and mean arterial BP, taking into account the interaction effects of genetic variants with three psychosocial factors: depressive symptoms, anxiety symptoms, and social support. Analyses were performed using a two-stage design in a sample of up to 128,894 adults from five ancestry groups. In the combined meta-analyses of stages 1 and 2, we identified 59 loci (p value < 5e−8), including nine novel BP loci. The novel associations were observed mostly with pulse pressure, with fewer observed with mean arterial pressure. Five novel loci were identified in African ancestry, and all but one showed patterns of interaction with at least one psychosocial factor. Functional annotation of the novel loci supports a major role for genes implicated in the immune response (PLCL2), synaptic function and neurotransmission (LIN7A and PFIA2), as well as genes previously implicated in neuropsychiatric or stress-related disorders (FSTL5 and CHODL). These findings underscore the importance of considering psychological and social factors in gene discovery for BP, especially in non-European populations.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.725
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0010.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.042
GPT teacher head0.324
Teacher spread0.282 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations14
Published2020
Admission routes1
Has abstractyes

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