{"about":{"site":"https://codewithpapers.app","non_affiliation":"Code with Papers and Syntology are not affiliated with, endorsed by, or sponsored by Papers with Code, Meta, or the pwc-archive mirror.","licence":"CC BY-SA 4.0","licence_url":"https://creativecommons.org/licenses/by-sa/4.0/legalcode","attribution":"https://codewithpapers.app/attribution","modified":"archive material modified by Syntology; see the attribution page"},"url":"/paper/distinguishing-correlation-from-causation","title":"Distinguishing correlation from causation using genome-wide association studies","arxiv_id":"1811.08803","date":"2018-11-21","proceeding":null,"authors":["Luke J. O'Connor","Alkes L. Price"],"abstract":"Genome-wide association studies (GWAS) have emerged as a rich source of\ngenetic clues into disease biology, and they have revealed strong genetic\ncorrelations among many diseases and traits. Some of these genetic correlations\nmay reflect causal relationships. We developed a method to quantify causal\nrelationships between genetically correlated traits using GWAS summary\nassociation statistics. In particular, our method quantifies what part of the\ngenetic component of trait 1 is also causal for trait 2 using mixed fourth\nmoments $E(\\alpha_1^2\\alpha_1\\alpha_2)$ and $E(\\alpha_2^2\\alpha_1\\alpha_2)$ of\nthe bivariate effect size distribution. If trait 1 is causal for trait 2, then\nSNPs affecting trait 1 (large $\\alpha_1^2$) will have correlated effects on\ntrait 2 (large $\\alpha_1\\alpha_2$), but not vice versa. We validated this\napproach in extensive simulations. Across 52 traits (average $N=331$k), we\nidentified 30 putative genetically causal relationships, many novel, including\nan effect of LDL cholesterol on decreased bone mineral density. More broadly,\nwe demonstrate that it is possible to distinguish between genetic correlation\nand causation using genetic association data.","url_abs":"http://arxiv.org/abs/1811.08803v1","url_pdf":"http://arxiv.org/pdf/1811.08803v1.pdf","source":{"archive":"pwc-archive (Hugging Face), CC BY-SA 4.0","snapshot":"2025-07-28","licence_url":"https://creativecommons.org/licenses/by-sa/4.0/legalcode","row_kind":"abstracts"},"code_links":[{"paper_slug":"distinguishing-correlation-from-causation","repo_url":"https://github.com/lukejoconnor/LCV","is_official":1,"mentioned_in_paper":1,"mentioned_in_github":0,"framework":"none","reach":null}],"tasks":[],"methods":[],"datasets_introduced":[],"methods_introduced":[],"results":[],"syntology":{"atlas_url":null,"mcp":null,"developers":"https://syntology.ai/developers"},"arxiv_metadata":null,"syntology_extracted_results":null}