145142 20260126150154.0 doi 10.1016/j.jnutbio.2017.10.005 sideral 103467 ART-2018-103467 eng Baila-Rueda, Lucía Cholesterol oversynthesis markers define familial combined hyperlipidemia versus other genetic hypercholesterolemias independently of body weight 2018 Primary hypercholesterolemia of genetic origin, negative for mutations in LDLR, APOB, PCSK9 and APOE genes (non-FH GH), and familial combined hyperlipidemia (FCHL) are polygenic genetic diseases that occur with hypercholesterolemia, and both share a very high cardiovascular risk. In order to better characterize the metabolic abnormalities associated with these primary hypercholesterolemias, we used noncholesterol sterols, as markers of cholesterol metabolism, to determine their potential differences. Hepatic cholesterol synthesis markers (desmosterol and lanosterol) and intestinal cholesterol absorption markers (sitosterol and campesterol) were determined in non-FH GH (n=200), FCHL (n=100) and genetically defined heterozygous familial hypercholesterolemia subjects (FH) (n=100) and in normolipidemic controls (n=100). FCHL subjects had lower cholesterol absorption and higher cholesterol synthesis than non-FH GH, FH and controls (P<.001). When noncholesterol sterols were adjusted by body mass index (BMI), FCHL subjects had higher cholesterol synthesis than non-FG GH, FH and controls (P<.001). An increase in BMI was accompanied by increased cholesterol synthesis and decreased cholesterol absorption in non-FH GH, FH and controls. However, this association between BMI and cholesterol synthesis was not observed in FCHL. Non-high-density-lipoprotein cholesterol showed a positive correlation with cholesterol synthesis markers similar to that of BMI in non-FH GH, FH and normolipemic controls, but there was no correlation in FCHL. These results suggest that FCHL and non-FH GH have different mechanisms of production. Cholesterol synthesis and absorption are dependent of BMI in non-FH GH, but cholesterol synthesis is increased as a pathogenic mechanism in FCHL independently of age, gender, APOE and BMI. info:eu-repo/grantAgreement/ES/ISCIII/FIS/IIS16-0114 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI13-02507 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI15-01983 info:eu-repo/semantics/closedAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 4.49 2018 NUTRITION & DIETETICS 13 / 85 = 0.153 2018 Q1 T1 BIOCHEMISTRY & MOLECULAR BIOLOGY 63 / 294 = 0.214 2018 Q1 T1 1.428 2018 Biochemistry 2018 Q1 Clinical Biochemistry 2018 Q1 Nutrition and Dietetics 2018 Q1 Molecular Biology 2018 Q1 Endocrinology, Diabetes and Metabolism 2018 Q1 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Cenarro, Ana Lamiquiz-Moneo, Itziar (orcid)0000-0002-9647-0108 Pérez-Calahorra, Sofía (orcid)0000-0002-1894-1621 Bea, Ana M. Marco-Benedí, Victoria Jarauta, Estíbaliz Universidad de Zaragoza (orcid)0000-0001-9142-0737 Mateo-Gallego, Rocío Universidad de Zaragoza (orcid)0000-0001-6650-8294 Civeira, Fernando Universidad de Zaragoza (orcid)0000-0001-7043-0952 1006 255 Universidad de Zaragoza Dpto. Fisiatría y Enfermería Área Enfermería 1007 610 Universidad de Zaragoza Dpto. Medicina, Psiqu. y Derm. Area Medicina 53 (2018), 48-57 J. nutr. biochem. Journal of Nutritional Biochemistry 0955-2863 1739722 http://zaguan.unizar.es/record/145142/files/texto_completo.pdf Versión publicada 2923369 http://zaguan.unizar.es/record/145142/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:145142 articulos driver 2026-01-26-14:59:45 ARTICLE