{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T12:25:43Z","timestamp":1768566343617,"version":"3.49.0"},"posted":{"date-parts":[[2024,11,4]]},"group-title":"Genetic and Genomic Medicine","reference-count":80,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T00:00:00Z","timestamp":1730678400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,11,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  Alzheimer\u2019s disease and related dementias (AD\/ADRDs) pose a significant global public health challenge, underscored by the intricate interplay of genetic and environmental factors that differ across ancestries. To effectively implement equitable, personalized therapeutic interventions on a global scale, it is essential to identify disease-causing mutations and genetic risk and resilience factors across diverse ancestral backgrounds. Exploring genetic-phenotypic correlations across the globe enhances the generalizability of research findings, contributing to a more inclusive and universal understanding of disease. This study leveraged biobank-scale data to conduct the largest multi-ancestry whole-genome sequencing characterization of AD\/ADRDs. We aimed to build a valuable catalog of potential disease-causing, genetic risk and resilience variants impacting the etiology of these conditions. We thoroughly characterized genetic variants from key genes associated with AD\/ADRDs across 11 genetic ancestries, utilizing data from All of Us, UK Biobank, 100,000 Genomes Project, Alzheimer\u2019s Disease Sequencing Project, and the Accelerating Medicines Partnership in Parkinson\u2019s Disease, including a total of 25,001 cases and 93,542 controls. We prioritized 116 variants possibly linked to disease, including 18 known pathogenic and 98 novel variants. We detected previously described disease-causing variants among controls, leading us to question their pathogenicity. Notably, we showed a higher frequency of\n                  <jats:italic>APOE<\/jats:italic>\n                  \u03b54\/\u03b54 carriers among individuals of African and African Admixed ancestry compared to other ancestries, confirming ancestry-driven modulation of\n                  <jats:italic>APOE<\/jats:italic>\n                  -associated AD\/ADRDs. A thorough assessment of\n                  <jats:italic>APOE<\/jats:italic>\n                  revealed a disease-modifying effect conferred by the\n                  <jats:italic>TOMM40<\/jats:italic>\n                  :rs11556505,\n                  <jats:italic>APOE<\/jats:italic>\n                  :rs449647,\n                  <jats:italic>19q13.31<\/jats:italic>\n                  :rs10423769,\n                  <jats:italic>NOCT<\/jats:italic>\n                  :rs13116075,\n                  <jats:italic>CASS4<\/jats:italic>\n                  :rs6024870, and\n                  <jats:italic>LRRC37A<\/jats:italic>\n                  :rs2732703 variants among\n                  <jats:italic>APOE<\/jats:italic>\n                  \u03b54 carriers across different ancestries. In summary, we compiled the most extensive catalog of established and novel genetic variants in known genes increasing risk or conferring resistance to AD\/ADRDs across diverse ancestries, providing clinical insights into their genetic-phenotypic correlations. The findings from this investigation hold significant implications for potential clinical trials and therapeutic interventions on a global scale. Finally, we present an accessible and user-friendly platform for the AD\/ADRDs research community to help inform and support basic, translational, and clinical research on these debilitating conditions (\n                  <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/niacard.shinyapps.io\/MAMBARD_browser\/\">https:\/\/niacard.shinyapps.io\/MAMBARD_browser\/<\/jats:ext-link>\n                  ).\n                <\/jats:p>","DOI":"10.1101\/2024.11.03.24313587","type":"posted-content","created":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T01:00:17Z","timestamp":1730768417000},"source":"Crossref","is-referenced-by-count":2,"title":["Biobank-scale characterization of Alzheimer\u2019s disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries"],"prefix":"10.64898","author":[{"given":"Marzieh","family":"Khani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fulya","family":"Ak\u00e7imen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spencer M.","family":"Grant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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