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We conducted genome\u2010wide association (GWA) analyses on amyloid imaging and plasma biomarkers to discern the genetic architecture of amyloid burden in DS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>GWA analyses were performed on amyloid positron emission tomography (PET) and plasma biomarkers (A\u03b240, A\u03b242, A\u03b242\/40 ratio) in participants from the Alzheimer's Biomarker Consortium\u2010Down Syndrome (ABC\u2010DS) and on plasma A\u03b2 biomarkers available in an independent DS cohort, followed by meta\u2010analysis of plasma A\u03b2 biomarker data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>\n                      Meta\u2010analysis on plasma biomarkers identified four novel loci: two for A\u03b242 (\n                      <jats:italic>PFKFB3<\/jats:italic>\n                      \/rs147647642,\n                      <jats:italic>p\u00a0<\/jats:italic>\n                      =\u00a02.83E\u201008;\n                      <jats:italic>DLX3\u2010PICART1<\/jats:italic>\n                      \/rs12952028,\n                      <jats:italic>p\u00a0<\/jats:italic>\n                      =\u00a09.31E\u201009) and two for A\u03b240 (\n                      <jats:italic>LINC01941\u2010GYPC<\/jats:italic>\n                      \/rs78338676,\n                      <jats:italic>p\u00a0<\/jats:italic>\n                      =\u00a09.33E\u201009;\n                      <jats:italic>PDE4D<\/jats:italic>\n                      \/rs146261781,\n                      <jats:italic>p\u00a0<\/jats:italic>\n                      =\u00a09.97E\u201008). Five genome\u2010wide signals were observed for amyloid\u2010PET in the ABC\u2010DS cohort that need confirmation in an independent DS dataset.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>DISCUSSION<\/jats:title>\n                    <jats:p>Despite the small sample, our findings highlight the unique genetic architecture of amyloid burden in DS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Highlights<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>Genetic markers for amyloid biomarkers in Down syndrome (DS) were identified.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Meta\u2010analyses identified four novel loci for plasma amyloid in two DS cohorts.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Five loci associated with amyloid positron emission tomography levels were identified in the Alzheimer's Biomarker Consortium\u2010Down Syndrome cohort.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Multi\u2010trait analysis revealed loci linking variants to amyloid biomarkers.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/alz.70358","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T03:01:16Z","timestamp":1752721276000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genome\u2010wide association analyses identify candidate loci for amyloid imaging and plasma biomarkers in adults with Down syndrome"],"prefix":"10.1002","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1817-7894","authenticated-orcid":false,"given":"M. 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