000168068 001__ 168068 000168068 005__ 20260126155509.0 000168068 0247_ $$2doi$$a10.1016/j.atherosclerosis.2016.01.005 000168068 0248_ $$2sideral$$a93403 000168068 037__ $$aART-2016-93403 000168068 041__ $$aeng 000168068 100__ $$aBaila-Rueda, L. 000168068 245__ $$aCosegregation of serum cholesterol with cholesterol intestinal absorption markers in families with primary hypercholesterolemia without mutations in LDLR, APOB, PCSK9 and APOE genes 000168068 260__ $$c2016 000168068 5203_ $$aBackground 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. 000168068 540__ $$9info:eu-repo/semantics/closedAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/ 000168068 590__ $$a4.239$$b2016 000168068 591__ $$aPERIPHERAL VASCULAR DISEASE$$b10 / 63 = 0.159$$c2016$$dQ1$$eT1 000168068 591__ $$aCARDIAC & CARDIOVASCULAR SYSTEMS$$b37 / 126 = 0.294$$c2016$$dQ2$$eT1 000168068 592__ $$a1.897$$b2016 000168068 593__ $$aCardiology and Cardiovascular Medicine$$c2016$$dQ1 000168068 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000168068 700__ $$aPérez-Ruiz, M. R. 000168068 700__ $$0(orcid)0000-0001-9142-0737$$aJarauta, E.$$uUniversidad de Zaragoza 000168068 700__ $$0(orcid)0000-0001-5026-5144$$aTejedor, M. T.$$uUniversidad de Zaragoza 000168068 700__ $$0(orcid)0000-0001-6650-8294$$aMateo-Gallego, R. 000168068 700__ $$0(orcid)0000-0002-9647-0108$$aLamiquiz-Moneo, I. 000168068 700__ $$0(orcid)0000-0001-6845-9334$$ade Castro-Orós, I.$$uUniversidad de Zaragoza 000168068 700__ $$aCenarro, A. 000168068 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, F.$$uUniversidad de Zaragoza 000168068 7102_ $$11001$$2420$$aUniversidad de Zaragoza$$bDpto. Anatom.,Embri.Genét.Ani.$$cÁrea Genética 000168068 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina 000168068 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole. 000168068 773__ $$g246 (2016), 202-207$$pAtherosclerosis$$tAtherosclerosis$$x0021-9150 000168068 8564_ $$s397096$$uhttps://zaguan.unizar.es/record/168068/files/texto_completo.pdf$$yVersión publicada 000168068 8564_ $$s2514510$$uhttps://zaguan.unizar.es/record/168068/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000168068 909CO $$ooai:zaguan.unizar.es:168068$$particulos$$pdriver 000168068 951__ $$a2026-01-26-14:49:42 000168068 980__ $$aARTICLE