{"id":"W3111421261","doi":"10.1038/s10038-020-00895-6","title":"Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease","year":2021,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Hormonal Regulation and Hypertension","field":"Medicine","cited_by":77,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; Centre for Global Health Research","funders":"National Health and Medical Research Council; Medical Research Council; Canadian Institutes of Health Research; Terveyden ja hyvinvoinnin laitos; Novo Nordisk Fonden; Oulun Yliopisto; Akademiska Sjukhuset; Government of Western Australia; Hjärt-Lungfonden; Murdoch University; Socialdepartementet; National Institutes of Health; University of Notre Dame Australia; Women and Infants Research Foundation; ZonMw; Raine Medical Research Foundation; National Institute for Health and Care Research; Vetenskapsrådet; Australian Government; King's College London; Nierstichting; University of Notre Dame; British Heart Foundation; Scottish Government; Curtin University of Technology; European Commission; Uppsala Universitet; Erasmus Universiteit Rotterdam; Edith Cowan University; Icahn School of Medicine at Mount Sinai; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Biotechnology and Biological Sciences Research Council; Wellcome Trust; Wellcome","keywords":"Expression quantitative trait loci; Biology; Internal medicine; Endocrinology; Genome-wide association study; Quantitative trait locus; Single-nucleotide polymorphism; Locus (genetics); Vitamin D-binding protein; Genetics; Genotype; Medicine; Gene; Vitamin D and neurology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005268988,0.0001323325,0.0004452586,0.0001686487,0.00008386488,0.00003118143,0.00008572888,0.00007261439,0.00002228273],"category_scores_gemma":[0.0002060831,0.00009954437,0.0001438754,0.0001809816,0.00004467128,0.0000861587,0.00005160601,0.0002750374,6.160865e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008338717,"about_ca_system_score_gemma":0.0001203339,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001621096,"about_ca_topic_score_gemma":0.00001531829,"domain_scores_codex":[0.9979895,0.0003332485,0.0007154866,0.0001753618,0.0006265281,0.0001598534],"domain_scores_gemma":[0.9989198,0.00006102201,0.0003893287,0.0002696277,0.0002227291,0.000137537],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006018328,0.0003418693,0.1993284,0.0001788719,0.0002001094,0.001788539,0.003320328,0.02244368,0.7638348,0.00000412419,0.00004713767,0.007910312],"study_design_scores_gemma":[0.003794892,0.0006398867,0.9470527,0.001159112,0.0006073843,0.0005011371,0.0008026587,0.01155942,0.03324065,0.0000868287,0.0003953324,0.0001599822],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9831309,0.01577129,0.0007150894,0.0001060643,0.00008247395,0.0001767915,0.000003934135,0.00000306414,0.00001034543],"genre_scores_gemma":[0.991862,0.005474993,0.002470898,0.00003780273,0.0001079184,0.000002625623,0.000009570572,0.00001725105,0.00001695737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7477243,"threshold_uncertainty_score":0.4059302,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01990661043339113,"score_gpt":0.2618309504804472,"score_spread":0.2419243400470561,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}