{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T21:28:14Z","timestamp":1791149294939,"version":"4.1.0"},"reference-count":33,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>The majority of hypertriglyceridemias are diagnosed as familial combined hyperlipidemia (FCHL) and primary isolated hypertriglyceridemias. The contribution of common genetic variants in primary hypertriglyceridemias and the genetic difference between FCHL and isolated hypertriglyceridemias have not been thoroughly examined.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              This study involved 580 patients with hypertriglyceridemias and 403 controls. Of the 37 single nucleotide polymorphisms examined, 12 located in 10 genes showed allelic and genotype frequency differences between hypertriglyceridemias and controls. The minor alleles of\n              <jats:italic>APOE<\/jats:italic>\n              ,\n              <jats:italic>APOA5<\/jats:italic>\n              ,\n              <jats:italic>GALNTN2<\/jats:italic>\n              , and\n              <jats:italic>GCKR<\/jats:italic>\n              variants were positively correlated with plasma triglycerides, whereas minor alleles of\n              <jats:italic>ADIPOR2<\/jats:italic>\n              ,\n              <jats:italic>ANGPTL3<\/jats:italic>\n              ,\n              <jats:italic>LPL<\/jats:italic>\n              , and\n              <jats:italic>TRIB1<\/jats:italic>\n              polymorphisms were inversely associated. Body mass index, glucose, sex, rs328 and rs7007797 in\n              <jats:italic>LPL<\/jats:italic>\n              , rs662799 and rs3135506 in\n              <jats:italic>APOA5<\/jats:italic>\n              , and rs1260326 in\n              <jats:italic>GCKR<\/jats:italic>\n              explained 36% of the variability in plasma triglycerides, 7.3% of which was attributable to the genetic variables.\n              <jats:italic>LPL<\/jats:italic>\n              ,\n              <jats:italic>GCKR<\/jats:italic>\n              , and\n              <jats:italic>APOA5<\/jats:italic>\n              polymorphisms fit dominant, recessive, and additive inheritance models, respectively. Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in\n              <jats:italic>APOE<\/jats:italic>\n              and rs1800795 in\n              <jats:italic>IL6<\/jats:italic>\n              ; rs2808607 in\n              <jats:italic>CYP7A1<\/jats:italic>\n              and rs3812316 and rs17145738 in\n              <jats:italic>MLXIPL<\/jats:italic>\n              were more frequent in FCHL. The other 32 single nucleotide polymorphisms presented similar frequencies between isolated hypertriglyceridemias and FCHL.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>\n              Common genetic variants found in\n              <jats:italic>LPL<\/jats:italic>\n              ,\n              <jats:italic>APOA5<\/jats:italic>\n              , and\n              <jats:italic>GCKR<\/jats:italic>\n              are associated with triglycerides levels in patients with primary hypertriglyceridemias. FCHL and isolated hypertriglyceridemias are probably trace to an accumulation of genetic variants predisposing to familial and sporadic hypertriglyceridemias or to hypertriglyceridemias and hypercholesterolemia in case of FCHL.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.114.000522","type":"journal-article","created":{"date-parts":[[2014,9,1]],"date-time":"2014-09-01T00:08:11Z","timestamp":1409530091000},"page":"814-821","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":41,"title":["Common Genetic Variants Contribute to Primary Hypertriglyceridemia Without Differences Between Familial Combined Hyperlipidemia and Isolated Hypertriglyceridemia"],"prefix":"10.1161","volume":"7","author":[{"given":"Isabel","family":"De Castro-Or\u00f3s","sequence":"first","affiliation":[{"name":"From the Unidad Cl\u00ednica y de Investigaci\u00f3n en L\u00edpidos y Arteriosclerosis y Laboratorio de Investigaci\u00f3n Molecular. Hospital Universitario Miguel Servet, Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n), Zaragoza, Spain (I.D.C.-O., A.C., L.B.-R., R.M.-G., I.L.-M., F.C.); Departamento de Anatom\u00eda, Embriolog\u00eda y Gen\u00e9tica (M.T.T.) and Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Celular (M.P.), Universidad de Zaragoza, Zaragoza, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Cenarro","sequence":"additional","affiliation":[{"name":"From the Unidad Cl\u00ednica y de Investigaci\u00f3n en L\u00edpidos y Arteriosclerosis y Laboratorio de Investigaci\u00f3n Molecular. Hospital Universitario Miguel Servet, Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n), Zaragoza, Spain (I.D.C.-O., A.C., L.B.-R., R.M.-G., I.L.-M., F.C.); Departamento de Anatom\u00eda, Embriolog\u00eda y Gen\u00e9tica (M.T.T.) and Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Celular (M.P.), Universidad de Zaragoza, Zaragoza, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Teresa","family":"Tejedor","sequence":"additional","affiliation":[{"name":"From the Unidad Cl\u00ednica y de Investigaci\u00f3n en L\u00edpidos y Arteriosclerosis y Laboratorio de Investigaci\u00f3n Molecular. Hospital Universitario Miguel Servet, Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n), Zaragoza, Spain (I.D.C.-O., A.C., L.B.-R., R.M.-G., I.L.-M., F.C.); Departamento de Anatom\u00eda, Embriolog\u00eda y Gen\u00e9tica (M.T.T.) and Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Celular (M.P.), Universidad de Zaragoza, Zaragoza, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc\u00eda","family":"Baila-Rueda","sequence":"additional","affiliation":[{"name":"From the Unidad Cl\u00ednica y de Investigaci\u00f3n en L\u00edpidos y Arteriosclerosis y Laboratorio de Investigaci\u00f3n Molecular. Hospital Universitario Miguel Servet, Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n), Zaragoza, Spain (I.D.C.-O., A.C., L.B.-R., R.M.-G., I.L.-M., F.C.); Departamento de Anatom\u00eda, Embriolog\u00eda y Gen\u00e9tica (M.T.T.) and Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Celular (M.P.), Universidad de Zaragoza, Zaragoza, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roc\u00edo","family":"Mateo-Gallego","sequence":"additional","affiliation":[{"name":"From the Unidad Cl\u00ednica y de Investigaci\u00f3n en L\u00edpidos y Arteriosclerosis y Laboratorio de Investigaci\u00f3n Molecular. Hospital Universitario Miguel Servet, Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n), Zaragoza, Spain (I.D.C.-O., A.C., L.B.-R., R.M.-G., I.L.-M., F.C.); Departamento de Anatom\u00eda, Embriolog\u00eda y Gen\u00e9tica (M.T.T.) and Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Celular (M.P.), Universidad de Zaragoza, Zaragoza, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itziar","family":"Lamiquiz-Moneo","sequence":"additional","affiliation":[{"name":"From the Unidad Cl\u00ednica y de Investigaci\u00f3n en L\u00edpidos y Arteriosclerosis y Laboratorio de Investigaci\u00f3n Molecular. Hospital Universitario Miguel Servet, Instituto de Investigaci\u00f3n Sanitaria Arag\u00f3n (IIS Arag\u00f3n), Zaragoza, Spain (I.D.C.-O., A.C., L.B.-R., R.M.-G., I.L.-M., F.C.); Departamento de Anatom\u00eda, Embriolog\u00eda y Gen\u00e9tica (M.T.T.) and Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Celular (M.P.), Universidad de Zaragoza, Zaragoza, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Pocov\u00ed","sequence":"additional","affiliation":[{"name":"From the Unidad Cl\u00ednica y de Investigaci\u00f3n en L\u00edpidos y Arteriosclerosis y Laboratorio de Investigaci\u00f3n Molecular. 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