{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:51:51Z","timestamp":1791348711945,"version":"4.3.1"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"10","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1993,5,15]]},"abstract":"<jats:p>Five DNA polymorphisms were detected in the promoter of the apolipoprotein CIII gene of a type III hyperlipidemic subject with severe hypertriglyceridemia (HTG). The polymorphic sites were C-641--&gt;A, G-630--&gt; A, T-625--&gt;deletion, C-482--&gt;T, and T-455--&gt;C, with the previously reported base at each site designated allele 1 and the variant base designated allele 2. The sites were in strong linkage disequilibrium with each other and with a polymorphic Sst I site in the apolipoprotein CIII 3' untranslated region whose presence (S2 allele) has previously been shown to be associated with HTG. The distribution of haplotypes of the form -625 -482 Sst I among 78 normolipidemic adults and 79 adults with severe HTG was estimated by maximum likelihood analysis. The 211 haplotype was estimated to be 3.8-fold more common in normal subjects than in HTG subjects (estimated proportions, 0.186 and 0.049, respectively). This haplotype was associated with reduced HTG risk (relative risk, 0.28; P = 0.005) when compared with other haplotypes lacking the Sst I site (S1 allele). The 222 haplotype was estimated to be present on 48 of the 54 S2-containing chromosomes observed and was associated with increased risk for HTG (relative risk, 3.14; P &lt; 0.0025). These results support the existence of apolipoprotein CIII promoter\/Sst I haplotypes conferring either protection against or susceptibility to severe HTG.<\/jats:p>","DOI":"10.1073\/pnas.90.10.4562","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T08:23:57Z","timestamp":1149063837000},"page":"4562-4566","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":159,"title":["An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3' untranslated region polymorphisms."],"prefix":"10.1073","volume":"90","author":[{"given":"M","family":"Dammerman","sequence":"first","affiliation":[{"name":"Laboratory of Biochemical Genetics and Metabolism, Rockefeller University, New York, NY 10021-6399."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L A","family":"Sandkuijl","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemical Genetics and Metabolism, Rockefeller University, New York, NY 10021-6399."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J L","family":"Halaas","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemical Genetics and Metabolism, Rockefeller University, New York, NY 10021-6399."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Chung","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemical Genetics and Metabolism, Rockefeller University, New York, NY 10021-6399."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J L","family":"Breslow","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemical Genetics and Metabolism, Rockefeller University, New York, NY 10021-6399."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1993,5,15]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.90.10.4562","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T13:38:51Z","timestamp":1649857131000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.90.10.4562"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5,15]]},"references-count":0,"journal-issue":{"issue":"10","published-print":{"date-parts":[[1993,5,15]]}},"alternative-id":["10.1073\/pnas.90.10.4562"],"URL":"https:\/\/doi.org\/10.1073\/pnas.90.10.4562","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,5,15]]},"assertion":[{"value":"1993-05-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}