{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T09:53:50Z","timestamp":1770112430549,"version":"3.49.0"},"posted":{"date-parts":[[2026,1,30]]},"group-title":"Pathology","reference-count":35,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T00:00:00Z","timestamp":1769731200000},"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":[[2026,1,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Familial dysbetalipoproteinemia (FDB) is a genetic lipoprotein disorder that can develop in patients homozygous for the APOE2 genotype (\u03b52\/\u03b52). It is associated with decreased clearance of remnant lipoproteins and increased atherosclerotic cardiovascular disease (ASCVD) risk disproportionate to their level of LDL-C. A goal of this study was to develop a screening test for the \u03b52\/\u03b52 genotype based on routinely available lipid tests and to determine those at most risk for ASCVD.<\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>After assembly of a primary prevention cohort from the UK Biobank (n= 269,895), gene array and exome data was utilized to classify patients as being \u03b52\/\u03b52 genotype positive or negative. Lipid profiles and APOB levels were extracted and the number of ASCVD events was tabulated during a 15-year follow-up period.<\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Using a newly developed equation for estimating APOB (eAPOB) with lipid panel test results, the ratio of measured APOB to eAPOB was better than any other individual lipid test or ratio for identifying patients with the \u03b52\/\u03b52 genotype (AUC: APOB\/eAPOB: 0.990 (0.986-0.994), nonHDL-C\/APOB: 0.961 (0.952-0.970), APOB: 0.955 (0.949-0.961), VLDL\/TG: 0.788 (0.771-0.804)). The majority of \u03b52\/\u03b52 patients could be identified with the APOB\/eAPOB ratio even before they expressed the FDB phenotype with elevated TG and nonHDL-C. The PCE or PREVENT risk equations were the most accurate method for identifying higher risk patients (AUC: PREVENT: 0.690 (0.637-0.742), PCE: 0.697 (0.645-0.749)).<\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The APOB\/eAPOB ratio can be used to accurately identify the \u03b52\/\u03b52 genotype and conventional risk equations are the best method for determining those at risk for ASCVD.<\/jats:p>\n                <\/jats:sec>","DOI":"10.64898\/2026.01.29.26345063","type":"posted-content","created":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T22:50:36Z","timestamp":1769813436000},"source":"Crossref","is-referenced-by-count":0,"title":["APOB to estimated APOB ratio for screening for the APOE2 genotype"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8287-2982","authenticated-orcid":false,"given":"C","family":"Auger","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0885-250X","authenticated-orcid":false,"given":"M","family":"Sampson","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4274-3585","authenticated-orcid":false,"given":"R","family":"Zubiran","sequence":"additional","affiliation":[{"name":"Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0278-4094","authenticated-orcid":false,"given":"J","family":"Cole","sequence":"additional","affiliation":[{"name":"Mike and Valeria Rosenbloom Centre for Cardiovascular Prevention, Division of Cardiology, McGill University Health Centre, Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9479-0741","authenticated-orcid":false,"given":"A","family":"Wolska","sequence":"additional","affiliation":[{"name":"Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5686-7103","authenticated-orcid":false,"given":"J","family":"Otvos","sequence":"additional","affiliation":[{"name":"University of North Carolina School of Medicine, Chapel 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