{"doi":"10.1101/2023.09.09.23295284","title":"Genome-Wide Association Studies of Coffee Intake in UK/US Participants of European Ancestry Uncover Gene-Cohort Influences","abstract":"<jats:title>Abstract</jats:title>\n                <jats:p>\n                  Coffee is one of the most widely consumed beverages. We performed a genome-wide association study (\n                  <jats:bold>GWAS</jats:bold>\n                  ) of coffee intake in US-based 23andMe participants (\n                  <jats:italic>N</jats:italic>\n                  =130,153) and identified 7 significant loci, with many replicating in three multi-ancestral cohorts. We examined genetic correlations and performed a phenome-wide association study across thousands of biomarkers and health and lifestyle traits, then compared our results to the largest available GWAS of coffee intake from UK Biobank (UKB;\n                  <jats:italic>N</jats:italic>\n                  =334,659). The results of these two GWAS were highly discrepant. We observed positive genetic correlations between coffee intake and psychiatric illnesses, pain, and gastrointestinal traits in 23andMe that were absent or negative in UKB. Genetic correlations with cognition were negative in 23andMe but positive in UKB. The only consistent observations were positive genetic correlations with substance use and obesity. Our study shows that GWAS in different cohorts could capture cultural differences in the relationship between behavior and genetics.\n                </jats:p>","journal":null,"year":null,"id":625790,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":189,"name":"Pierre Fontanillas","orcid":"0000-0002-8944-4454","position":1,"is_corresponding":false},{"id":816078,"name":"Benjamin K. Pham","orcid":"0009-0005-5994-3593","position":2,"is_corresponding":false},{"id":1119104,"name":"John J. Meredith","orcid":"0000-0001-6622-6414","position":3,"is_corresponding":false},{"id":1618576,"name":"Mariela V Jennings","orcid":null,"position":4,"is_corresponding":false},{"id":626219,"name":"Natasia S. Courchesne‐Krak","orcid":"0000-0002-9231-647X","position":5,"is_corresponding":false},{"id":277303,"name":"Laura Vilar‐Ribó","orcid":"0000-0001-8758-523X","position":6,"is_corresponding":false},{"id":822742,"name":"Sevim B. Bianchi","orcid":"0009-0007-6000-2883","position":7,"is_corresponding":false},{"id":950451,"name":"Julian Mutz","orcid":"0000-0001-5308-1957","position":8,"is_corresponding":false},{"id":188,"name":"Sarah L. Elson","orcid":"0000-0002-3211-3750","position":10,"is_corresponding":false},{"id":910445,"name":"Jibran Y. Khokhar","orcid":"0000-0002-2169-2275","position":11,"is_corresponding":false},{"id":5193,"name":"Abdel Abdellaoui","orcid":"0000-0003-1088-6784","position":12,"is_corresponding":false},{"id":11243,"name":"Lea K. Davis","orcid":"0000-0001-5143-2282","position":13,"is_corresponding":false},{"id":230002,"name":"Abraham A. Palmer","orcid":"0000-0003-3634-0747","position":14,"is_corresponding":false},{"id":85959,"name":"Sandra Sanchez-Roige","orcid":"0000-0001-6137-5699","position":15,"is_corresponding":false},{"id":1242535,"name":"Hayley H. A. Thorpe","orcid":"0000-0002-7263-637X","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Genome-Wide Association Studies of Coffee Intake in UK/US Participants of European Ancestry Uncover Gene-Cohort Influences","abstract":"<jats:title>Abstract</jats:title>\n                <jats:p>\n                  Coffee is one of the most widely consumed beverages. We performed a genome-wide association study (\n                  <jats:bold>GWAS</jats:bold>\n                  ) of coffee intake in US-based 23andMe participants (\n                  <jats:italic>N</jats:italic>\n                  =130,153) and identified 7 significant loci, with many replicating in three multi-ancestral cohorts. We examined genetic correlations and performed a phenome-wide association study across thousands of biomarkers and health and lifestyle traits, then compared our results to the largest available GWAS of coffee intake from UK Biobank (UKB;\n                  <jats:italic>N</jats:italic>\n                  =334,659). The results of these two GWAS were highly discrepant. We observed positive genetic correlations between coffee intake and psychiatric illnesses, pain, and gastrointestinal traits in 23andMe that were absent or negative in UKB. Genetic correlations with cognition were negative in 23andMe but positive in UKB. The only consistent observations were positive genetic correlations with substance use and obesity. Our study shows that GWAS in different cohorts could capture cultural differences in the relationship between behavior and genetics.\n                </jats:p>","is_dataset_classified":null,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"37745582","pmcid":null,"openalex_id":"https://openalex.org/W4386609809","authors":[],"funders":[{"funder_name":"National Institutes of Health","grant_id":"5R01HD074711-03","title":"Understanding the genetic risk underlying racial disparities in uterine fibroids"},{"funder_name":"National Institutes of Health","grant_id":"3UL1RR024975-03S4","title":"The Vanderbilt Institute for Clinical and Translational Research (VICTR) UL1"},{"funder_name":"National Institutes of Health","grant_id":"5R01MH113362-04","title":"Discovering Biology for Neuropsychiatric Diseases Through Omics Studies on 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Institutes of Health","grant_id":"5DP1DA054394-03","title":"Building Bridges to Allow Cross-species Translational genetics for the Study of Addiction"},{"funder_name":"European Commission","grant_id":"647648","title":"The molecular genetic architecture of educational attainment and its significance for cognitive health"},{"funder_name":"Canadian Institutes of Health Research","grant_id":"unidentified","title":"unidentified"},{"funder_name":"National Institutes of Health","grant_id":"3U01HG006378-02S1","title":"Vanderbilt Genome Electronic Records Project"},{"funder_name":"National Institutes of Health","grant_id":"3P50DA037844-05S1","title":"Integrated GWAS of complex behavioral and gene expression traits in outbred rats"},{"funder_name":"National Institutes of Health","grant_id":"5R01AA015416-06","title":"Gene-Environment Interplay in Adolescent Alcohol Use"},{"funder_name":"National Institutes of Health","grant_id":"2U19HL065962-10","title":"Pharmacogenomics of Arrhythmia Therapy"},{"funder_name":"National Institutes of Health","grant_id":"2R25MH081482-16","title":"Interdisciplinary Research Fellowship in NeuroAIDS"},{"funder_name":"National Institutes of Health","grant_id":"3U01HG004798-02S2","title":"Epidemiologic Architecture for Genes Linked to Environment (EAGLE)"},{"funder_name":"National Institutes of Health","grant_id":"2R01NS032830-10A1","title":"Genetic Epidemiology of Multiple Sclerosis"},{"funder_name":"National Institutes of Health","grant_id":"6UL1TR000445-11","title":"The Vanderbilt Institute for Clinical and Translational Research (VICTR)"},{"funder_name":"National Institutes of Health","grant_id":"3U10AA008401-33S1","title":"Collaborative Study on the Genetics of Alcoholism (COGA)"},{"funder_name":"National Institutes of Health","grant_id":"5K02AA018755-07","title":"Genes, Environments & Interventions: Understanding and Addressing Alcohol Misuse"}],"total_grants":22,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[{"year":2025,"count":1}],"oa_status":"green","license":"cc-by-nd","oa_locations":[{"url":"https://www.medrxiv.org/content/medrxiv/early/2023/09/11/2023.09.09.23295284.full.pdf","host_type":"repository"},{"url":"https://www.medrxiv.org/content/medrxiv/early/2023/09/11/2023.09.09.23295284.full.pdf","host_type":"repository"},{"url":"https://syndication.highwire.org/content/doi/10.1101/2023.09.09.23295284","host_type":"publisher"},{"url":"https://doi.org/10.1101/2023.09.09.23295284","host_type":"repository"},{"url":"https://pubmed.ncbi.nlm.nih.gov/37745582","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10516045","host_type":"repository"},{"url":"https://ddd.uab.cat/record/284593","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10516045/pdf/nihpp-2023.09.09.23295284v1.pdf","host_type":"repository"},{"url":"http://dx.doi.org/10.1101/2023.09.09.23295284","host_type":""},{"url":"https://dx.doi.org/urn:doi:10.1101/2023.09.09.23295284","host_type":""}],"fields_of_study":["Coffee research and impacts","0301 basic medicine","03 medical and health sciences"],"mesh_terms":[],"keywords":["Genome-wide association study","Phenome","Biobank","Genetic association","Obesity","Biology","Cohort","Genetic genealogy","Genetics","Demography","Medicine","Genome","Gene","Genotype","Single-nucleotide polymorphism","Internal medicine","Environmental health","Population","Endocrinology","Article"],"sdg_mappings":[{"sdg_number":2,"sdg_label":"2. 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