000097423 001__ 97423
000097423 005__ 20221221141553.0
000097423 0247_ $$2doi$$a10.3389/fgene.2020.554931
000097423 0248_ $$2sideral$$a121802
000097423 037__ $$aART-2020-121802
000097423 041__ $$aeng
000097423 100__ $$0(orcid)0000-0001-9142-0737$$aJarauta, E.$$uUniversidad de Zaragoza
000097423 245__ $$aGenetics of Hypercholesterolemia: Comparison Between Familial Hypercholesterolemia and Hypercholesterolemia Nonrelated to LDL Receptor
000097423 260__ $$c2020
000097423 5060_ $$aAccess copy available to the general public$$fUnrestricted
000097423 5203_ $$aSevere hypercholesterolemia (HC) is defined as an elevation of total cholesterol (TC) due to the increase in LDL cholesterol (LDL-C) >95th percentile or 190 mg/dl. The high values of LDL-C, especially when it is maintained over time, is considered a risk factor for the development of atherosclerotic cardiovascular disease (ASCVD), mostly expressed as ischemic heart disease (IHD). One of the best characterized forms of severe HC, familial hypercholesterolemia (FH), is caused by the presence of a major variant in one gene (LDLR, APOB, PCSK9, or ApoE), with an autosomal codominant pattern of inheritance, causing an extreme elevation of LDL-C and early IHD. Nevertheless, an important proportion of serious HC cases, denominated polygenic hypercholesterolemia (PH), may be attributed to the small additive effect of a number of single nucleotide variants (SNVs), located along the whole genome. The diagnosis, prevalence, and cardiovascular risk associated with PH has not been fully established at the moment. Cascade screening to detect a specific genetic defect is advised in all first- and second-degree relatives of subjects with FH. Conversely, in the rest of cases of HC, it is only advised to screen high values of LDL-C in first-degree relatives since there is not a consensus for the genetic diagnosis of PH. FH is associated with the highest cardiovascular risk, followed by PH and other forms of HC. Early detection and initiation of high-intensity lipid-lowering treatment is proposed in all subjects with severe HC for the primary prevention of ASCVD, with an objective of LDL-C <100 mg/dl or a decrease of at least 50%. A more aggressive reduction in LDL-C is necessary in HC subjects who associate personal history of ASCVD or other cardiovascular risk factors.
000097423 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/FIS2018-013$$9info:eu-repo/grantAgreement/ES/ISCIII-MSCBS/Juan Rodes program 2018-2021
000097423 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000097423 590__ $$a4.599$$b2020
000097423 591__ $$aGENETICS & HEREDITY$$b48 / 175 = 0.274$$c2020$$dQ2$$eT1
000097423 592__ $$a1.413$$b2020
000097423 593__ $$aGenetics$$c2020$$dQ2
000097423 593__ $$aMolecular Medicine$$c2020$$dQ2
000097423 593__ $$aGenetics (clinical)$$c2020$$dQ2
000097423 655_4 $$ainfo:eu-repo/semantics/review$$vinfo:eu-repo/semantics/publishedVersion
000097423 700__ $$aBea-Sanz, A.M.
000097423 700__ $$aMarco-Benedi, V.
000097423 700__ $$0(orcid)0000-0002-9647-0108$$aLamiquiz-Moneo, I.
000097423 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000097423 773__ $$g11 (2020), 554931 [13 pp]$$pFront. genet.$$tFrontiers in Genetics$$x1664-8021
000097423 8564_ $$s252142$$uhttps://zaguan.unizar.es/record/97423/files/texto_completo.pdf$$yVersión publicada
000097423 8564_ $$s27973$$uhttps://zaguan.unizar.es/record/97423/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
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000097423 951__ $$a2022-12-21-14:01:57
000097423 980__ $$aARTICLE