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In a large sample of individuals from the ARIC study, six polymorphic markers were typed and plasma lipid values were measured to determine whether the well-established association between the<jats:italic>Sst<\/jats:italic>I S2 allele in the 3\u2032-untranslated region of the apo C-III gene and hypertriglyceridemia was due to disequilibrium with variation in the 5\u2032 regulatory region of the apo C-III gene. The<jats:italic>Sst<\/jats:italic>I polymorphism was significantly associated with hypertriglyceridemia (<jats:italic>P<\/jats:italic>=.006) but not with carotid artery wall thickness, plasma apo C-III levels, or elevated cholesterol. The frequency of the S2 allele was 0.14 in those with high triglyceride levels and 0.05 in those with low triglyceride levels. None of the 5\u2032 flanking polymorphisms were significantly associated with any of the plasma lipids studied. There was substantial linkage disequilibrium between the<jats:italic>Sst<\/jats:italic>I polymorphism and each of the 5\u2032 apo C-III polymorphisms; however, the significant association between the apo C-III haplotypes and hypertriglyceridemia (odds ratio, 4.0;<jats:italic>P<\/jats:italic>&lt;.0001) was solely attributable to the effects of the<jats:italic>Sst<\/jats:italic>I polymorphism (odds ratio, 3.96). As a part of these analyses, we also defined a unique haplotype that is inversely associated with the occurrence of hypertriglyceridemia, suggesting further molecular analyses of this important gene region.<\/jats:p>","DOI":"10.1161\/01.atv.16.8.941","type":"journal-article","created":{"date-parts":[[2011,6,17]],"date-time":"2011-06-17T19:44:19Z","timestamp":1308339859000},"page":"941-947","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":77,"title":["Polymorphic Markers in Apolipoprotein C-III Gene Flanking Regions and Hypertriglyceridemia"],"prefix":"10.1161","volume":"16","author":[{"given":"Andrei P.","family":"Surguchov","sequence":"first","affiliation":[{"name":"the Department of Medicine, Baylor College of Medicine, Houston, Tex (A.P.S., L.S.); the Human Genetics Center, University of Texas Health Science Center, Houston (G.P.P., E.B.); and the Department of Laboratory Medicine, Landeskrankenanstalten Salzburg, Austria (W.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grier P.","family":"Page","sequence":"additional","affiliation":[{"name":"the Department of Medicine, Baylor College of Medicine, Houston, Tex (A.P.S., L.S.); the Human Genetics Center, University of Texas Health Science Center, Houston (G.P.P., E.B.); and the Department of Laboratory Medicine, Landeskrankenanstalten Salzburg, Austria (W.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis","family":"Smith","sequence":"additional","affiliation":[{"name":"the Department of Medicine, Baylor College of Medicine, Houston, Tex (A.P.S., L.S.); the Human Genetics Center, University of Texas Health Science Center, Houston (G.P.P., E.B.); and the Department of Laboratory Medicine, Landeskrankenanstalten Salzburg, Austria (W.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Patsch","sequence":"additional","affiliation":[{"name":"the Department of Medicine, Baylor College of Medicine, Houston, Tex (A.P.S., L.S.); the Human Genetics Center, University of Texas Health Science Center, Houston (G.P.P., E.B.); and the Department of Laboratory Medicine, Landeskrankenanstalten Salzburg, Austria (W.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Boerwinkle","sequence":"additional","affiliation":[{"name":"the Department of Medicine, Baylor College of Medicine, Houston, Tex (A.P.S., L.S.); the Human Genetics Center, University of Texas Health Science Center, Houston (G.P.P., E.B.); and the Department of Laboratory Medicine, Landeskrankenanstalten Salzburg, Austria (W.P.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9150(93)90202-6"},{"key":"e_1_3_2_2_2","first-page":"238","volume":"87","year":"1991","journal-title":"Atherosclerosis"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199304293281702"},{"key":"e_1_3_2_4_2","first-page":"435","volume":"72","year":"1994","journal-title":"Clin Invest"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112062"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.4.2.97"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116066"},{"key":"e_1_3_2_8_2","first-page":"383","volume":"75","year":"1985","journal-title":"J Clin Invest"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2167514"},{"key":"e_1_3_2_10_2","doi-asserted-by":"crossref","first-page":"23610","DOI":"10.1016\/S0021-9258(17)31559-4","volume":"269","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9150(91)90234-T"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)91440-X"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/35.2.256"},{"key":"e_1_3_2_14_2","first-page":"361","volume":"95","year":"1995","journal-title":"Hum Genet"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(79)90004-0"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a115184"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1161\/atv91.13.8.8343489"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1161\/circ.74.6.3536154"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.10.4562"},{"key":"e_1_3_2_21_2","doi-asserted-by":"crossref","unstructured":"Surguchov AP Liu S-B Patsch W. 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