168068 20260126155509.0 doi 10.1016/j.atherosclerosis.2016.01.005 sideral 93403 ART-2016-93403 eng Baila-Rueda, L. Cosegregation of serum cholesterol with cholesterol intestinal absorption markers in families with primary hypercholesterolemia without mutations in LDLR, APOB, PCSK9 and APOE genes 2016 Background and aim: The genetic cause and pathogenic mechanism of approximately 20-40% of autosomal dominant hypercholesterolemias (ADH) are unknown. Increased cholesterol intestinal absorption has been associated to ADH. If this variation contributes to their pathogenesis is unknown. Methods and results: We studied cholesterol absorption (phytosterols and cholestanol serum concentrations) and cholesterol synthesis (desmosterol serum concentration) in 20 families with ADH without causal mutations in LDLR, APOB, PCSK9 or APOE genes (non-FH ADH) selected from 54 non-FH ADH probands with (non-cholesterol sterol concentrations above 75th percentile) and without (under 75th percentile) hyperabsorption. The concentrations of cholestanol, sitosterol, campesterol and stigmasterol were higher in affected than in non-affected subjects (. p = 0.003, <0.001.<0.001, 0.002, respectively). There was a strong cosegregation of hyperabsorption with high LDL cholesterol within hyperabsorber families with odds ratio 6.80 (confidence interval 1.656-27.9), p = 0.008. In hyperabsorber families, 60.5% of subjects were hyperabsorbers and 76% of them had high LDL cholesterol versus 38.3% and 63% in non-hyperabsorber families, respectively. Conclusion: Most hypercholesterolemic family members with a hyperabsorber proband are hyperabsorbers. These absorption markers are significantly and positively associated with LDL cholesterol, and predispose to high LDL cholesterol in family members. Our data suggest that complex interindividual variation in cholesterol absorption is involved in many non-FH ADH. info:eu-repo/semantics/closedAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 4.239 2016 PERIPHERAL VASCULAR DISEASE 10 / 63 = 0.159 2016 Q1 T1 CARDIAC & CARDIOVASCULAR SYSTEMS 37 / 126 = 0.294 2016 Q2 T1 1.897 2016 Cardiology and Cardiovascular Medicine 2016 Q1 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Pérez-Ruiz, M. R. Jarauta, E. Universidad de Zaragoza (orcid)0000-0001-9142-0737 Tejedor, M. T. Universidad de Zaragoza (orcid)0000-0001-5026-5144 Mateo-Gallego, R. (orcid)0000-0001-6650-8294 Lamiquiz-Moneo, I. (orcid)0000-0002-9647-0108 de Castro-Orós, I. Universidad de Zaragoza (orcid)0000-0001-6845-9334 Cenarro, A. Civeira, F. Universidad de Zaragoza (orcid)0000-0001-7043-0952 1001 420 Universidad de Zaragoza Dpto. Anatom.,Embri.Genét.Ani. Área Genética 1007 610 Universidad de Zaragoza Dpto. Medicina, Psiqu. y Derm. Area Medicina 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 246 (2016), 202-207 Atherosclerosis Atherosclerosis 0021-9150 397096 http://zaguan.unizar.es/record/168068/files/texto_completo.pdf Versión publicada 2514510 http://zaguan.unizar.es/record/168068/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:168068 articulos driver 2026-01-26-14:49:42 ARTICLE