{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T20:40:20Z","timestamp":1791751220192,"version":"4.3.4"},"reference-count":42,"publisher":"American Medical Association (AMA)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Netw Open"],"abstract":"<jats:sec id=\"ab-zoi260074-4\">\n                    <jats:title>Importance<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      M1 (p.N264K) variant protects against G2-associated\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      focal segmental glomerulosclerosis (FSGS) and chronic kidney disease (CKD). However, the utility of knowing an individual\u2019s M1 status in guiding kidney disease diagnosis and other clinical scenarios remains underexplored.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-zoi260074-5\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To test 2 hypotheses: (1) in patients with\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      high-risk (HR) genotype kidney disease with at least 1 G2 allele, M1 can distinguish\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      CKD from non-\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      CKD; (2) in people with\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      low-risk (LR) genotypes, M1 is independently associated with protection against FSGS and CKD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-zoi260074-6\">\n                    <jats:title>Design, Setting, and Participants<\/jats:title>\n                    <jats:p>Retrospective case-control study using data from 2 tertiary care hospitals (Columbia University Irving Medical Center and Mass General Brigham Biobank) and population-based data (the UK Biobank [UKB], Electronic Medical Records and Genomics [eMERGE-III], and All of Us [AoU]). Participants were individuals with a diagnosis of FSGS or steroid-resistant nephrotic syndrome (SRNS), individuals with CKD, and controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-zoi260074-7\">\n                    <jats:title>Exposures<\/jats:title>\n                    <jats:p>Exposures included the M1 variant (p.N264K) obtained from exome or genome sequencing data, sex, and genetic ancestry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-zoi260074-8\">\n                    <jats:title>Main outcome and measure<\/jats:title>\n                    <jats:p>The main outcome was the presence or absence of kidney disease, defined as FSGS or non-FSGS CKD, compared with non\u2013kidney disease controls. Association between the M1 variant and disease status was assessed using odds ratios (ORs).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-zoi260074-9\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 107\u202f696 individuals (54\u202f994 [51.1%] female; 8779 [8.2%] with African ancestry, 78\u202f475 [72.9%] with European ancestry, and 16\u202f129 [15.0%] with multiethnic ancestry), including 3460 with FSGS or SRNS, 24\u202f382 with non-FSGS CKD kidney disease, and 79\u202f854 controls were enrolled in the discovery cohort. In the\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      -HR group (1413 participants), M1 was significantly inversely associated with FSGS or SRNS cases compared with controls without kidney disease (OR, 0.20; 95% CI, 0.04-0.63;\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u2009=\u20093.69\u2009\u00d7\u200910\n                      <jats:sup>\u22123<\/jats:sup>\n                      ). Among individuals with CKD with\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      -HR genotypes, M1 was 4 times more frequent in those whose CKD was not due to FSGS or SRNS. Importantly, electronic health record and biopsy review identified an alternative, non-\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      cause for CKD in nearly all\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      -HR-M1 cases. There was no association between individuals with\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      -LR genotypes with M1 and protection against CKD or FSGS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-zoi260074-10\">\n                    <jats:title>Conclusions and relevance<\/jats:title>\n                    <jats:p>\n                      In this case-control study of 107\u202f696 individuals, presence of an\n                      <jats:italic toggle=\"yes\">APOL1<\/jats:italic>\n                      -HR genotype M1 was significantly associated with protection against kidney disease, suggesting that it may have a role as a genetic modifier. Patients with CKD with an A\n                      <jats:italic toggle=\"yes\">POL1<\/jats:italic>\n                      -HR genotype and M1 should be evaluated for an alternative and potentially treatable cause of their CKD.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1001\/jamanetworkopen.2026.1452","type":"journal-article","created":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T15:00:33Z","timestamp":1773241233000},"page":"e261452","source":"Crossref","is-referenced-by-count":5,"title":["Precision Diagnosis in\n                    <i>APOL1<\/i>\n                    Kidney Disease With the p.N264K M1 Protective Variant"],"prefix":"10.1001","volume":"9","author":[{"given":"Elena","family":"Martinelli","sequence":"first","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New 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Massachusetts"},{"name":"Bumrungrad Genomic Medicine Institute and Department of Medicine, Bumrungrad International Hospital, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Vanderwall","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tze Y.","family":"Lim","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York"},{"name":"Unit of Genomic Variability and Complex Diseases, Department of Medical Sciences, University of Turin, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominick","family":"Santoriello","sequence":"additional","affiliation":[{"name":"The Renal Pathology Laboratory of the Department of Pathology and Cell Biology, Columbia University, New York, New 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