{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T08:26:34Z","timestamp":1779179194625,"version":"3.51.4"},"reference-count":26,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Nephrol"],"published-print":{"date-parts":[[2015]]},"abstract":"<b><i>Background:<\/i><\/b> In African Americans (AAs), <i>APOL1<\/i> G1 and G2 nephropathy risk variants are associated with non-diabetic end-stage kidney disease (ESKD) in an autosomal recessive pattern. Additional risk and protective genetic variants may be present near the <i>APOL1<\/i> loci, since earlier age ESKD is observed in some AAs with one <i>APOL1<\/i> renal-risk variant, and because the adjacent gene <i>MYH9<\/i> is associated with nephropathy in populations lacking G1 and G2 variants. <b><i>Methods:<\/i><\/b> Re-sequencing was performed across a \u223c275 kb region encompassing the <i>APOL1-APOL4<\/i> and <i>MYH9<\/i> genes in 154 AA cases with non-diabetic ESKD and 38 controls without nephropathy who were heterozygous for a single <i>APOL1<\/i> G1 or G2 risk variant. <b><i>Results:<\/i><\/b> Sequencing identified 3,246 non-coding single nucleotide polymorphisms (SNPs), 55 coding SNPs, and 246 insertion\/deletions. No new coding variations were identified. Eleven variants, including a rare <i>APOL3<\/i> Gln<sup>58<\/sup>Ter null variant (rs11089781), were genotyped in a replication panel of 1,571 AA ESKD cases and 1,334 controls. After adjusting for <i>APOL1<\/i> G1 and G2 risk effects, these variations were not significantly associated with ESKD. In subjects with <2 <i>APOL1<\/i> G1 and\/or G2 alleles (849 cases; 1,139 controls), the <i>APOL3<\/i> null variant was nominally associated with ESKD (recessive model, OR 1.81; p = 0.026); however, analysis in 807 AA cases and 634 controls from the Family Investigation of Nephropathy and Diabetes did not replicate this association. <b><i>Conclusion:<\/i><\/b> Additional common variants in the <i>APOL1-APOL4<\/i>-<i>MYH9<\/i> region do not contribute significantly to ESKD risk beyond the <i>APOL1<\/i> G1 and G2 alleles.<\/jats:p>","DOI":"10.1159\/000439448","type":"journal-article","created":{"date-parts":[[2015,9,7]],"date-time":"2015-09-07T21:01:27Z","timestamp":1441659687000},"page":"99-106","source":"Crossref","is-referenced-by-count":15,"title":["Re-Sequencing of the <b><i>APOL1<\/i><\/b>-<b><i>APOL4<\/i><\/b> and <b><i>MYH9<\/i><\/b> Gene Regions in African Americans Does Not Identify Additional Risks for CKD Progression"],"prefix":"10.1159","volume":"42","author":[{"given":"Gregory A.","family":"Hawkins","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingyi","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"McWilliams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeff W.","family":"Chou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satria","family":"Sajuthi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmin","family":"Divers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rulan 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