000168054 001__ 168054
000168054 005__ 20260126155509.0
000168054 0247_ $$2doi$$a10.1016/j.recesp.2017.07.030
000168054 0248_ $$2sideral$$a105804
000168054 037__ $$aART-2018-105804
000168054 041__ $$aeng
000168054 100__ $$aLamiquiz-Moneo, I.
000168054 245__ $$aVariantes de un solo nucleótido asociadas con la hipercolesterolemia poligénica en familias diagnosticadas de hipercolesterolemia familiar
000168054 260__ $$c2018
000168054 5203_ $$aIntroduction and objectives: Approximately 20% to 40% of clinically defined familial hypercholesterolemia cases do not show a causative mutation in candidate genes, and some of them may have a polygenic origin. A cholesterol gene risk score for the diagnosis of polygenic hypercholesterolemia has been demonstrated to be valuable to differentiate polygenic and monogenic hypercholesterolemia. The aim of this study was to determine the contribution to low-density lipoprotein cholesterol (LDL-C) of the single nucleotide variants associated with polygenic hypercholesterolemia in probands with genetic hypercholesterolemia without mutations in candidate genes (nonfamilial hypercholesterolemia genetic hypercholesterolemia) and the genetic score in cascade screening in their family members. Methods: We recruited 49 nonfamilial hypercholesterolemia genetic hypercholesterolemia families (294 participants) and calculated cholesterol gene scores, derived from single nucleotide variants in SORT1, APOB, ABCG8, APOE and LDLR and lipoprotein(a) plasma concentration. Results: Risk alleles in SORT1, ABCG8, APOE, and LDLR showed a statistically significantly higher frequency in blood relatives than in the 1000 Genomes Project. However, there were no differences between affected and nonaffected members. The contribution of the cholesterol gene score to LDL-C was significantly higher in affected than in nonaffected participants (P = .048). The percentage of the LDL-C variation explained by the score was 3.1%, and this percentage increased to 6.9% in those families with the highest genetic score in the proband. Conclusions: Nonfamilial hypercholesterolemia genetic hypercholesterolemia families concentrate risk alleles for high LDL-C. Their contribution varies greatly among families, indicating the complexity and heterogeneity of these forms of hypercholesterolemias. The gene score explains a small percentage of LDL-C, which limits its use in diagnosis. Full English text available from: www.revespcardiol.org/en
000168054 540__ $$9info:eu-repo/semantics/closedAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000168054 590__ $$a5.126$$b2018
000168054 591__ $$aCARDIAC & CARDIOVASCULAR SYSTEMS$$b27 / 135 = 0.2$$c2018$$dQ1$$eT1
000168054 592__ $$a0.579$$b2018
000168054 593__ $$aCardiology and Cardiovascular Medicine$$c2018$$dQ2
000168054 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000168054 700__ $$aPérez-Ruiz, M.R.
000168054 700__ $$0(orcid)0000-0001-9142-0737$$aJarauta, E.$$uUniversidad de Zaragoza
000168054 700__ $$0(orcid)0000-0001-5026-5144$$aTejedor, M.T.$$uUniversidad de Zaragoza
000168054 700__ $$aBea, A.M.
000168054 700__ $$aMateo-Gallego, R.
000168054 700__ $$aPérez-Calahorra, S.
000168054 700__ $$aBaila-Rueda, L.
000168054 700__ $$aMarco-Benedí, V.
000168054 700__ $$0(orcid)0000-0001-6845-9334$$ade Castro-Orós, I.
000168054 700__ $$aCenarro, A.
000168054 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, F.$$uUniversidad de Zaragoza
000168054 7102_ $$11001$$2420$$aUniversidad de Zaragoza$$bDpto. Anatom.,Embri.Genét.Ani.$$cÁrea Genética
000168054 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000168054 773__ $$g71, 5 (2018), 351-356$$pRev. esp. cardiol.$$tRevista Española de Cardiología$$x0300-8932
000168054 8564_ $$s273743$$uhttps://zaguan.unizar.es/record/168054/files/texto_completo.pdf$$yVersión publicada
000168054 8564_ $$s2707947$$uhttps://zaguan.unizar.es/record/168054/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000168054 909CO $$ooai:zaguan.unizar.es:168054$$particulos$$pdriver
000168054 951__ $$a2026-01-26-14:49:17
000168054 980__ $$aARTICLE