000148185 001__ 148185
000148185 005__ 20250114175434.0
000148185 0247_ $$2doi$$a10.1016/j.rec.2020.06.003
000148185 0248_ $$2sideral$$a131159
000148185 037__ $$aART-2021-131159
000148185 041__ $$aeng
000148185 100__ $$0(orcid)0000-0002-9647-0108$$aLamiquiz-Moneo, Itziar$$uUniversidad de Zaragoza
000148185 245__ $$aDiagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia
000148185 260__ $$c2021
000148185 5060_ $$aAccess copy available to the general public$$fUnrestricted
000148185 5203_ $$aIntroduction and objectives: Our objective was to approximate the prevalence of mutations in candidate genes for familial hypercholesterolemia (FH) in a middle-aged Spanish population and to establish the predictive value of criteria for clinical suspicion in the detection of causative mutations.
Methods: Unrelated individuals aged = 18 years from the Aragon Workers’ Health Study (AWHS) with high low-density lipoprotein cholesterol (LDL-C) and clinical suspicion of FH (participants with LDL-C concentrations above the 95th percentile, participants with premature cardiovascular disease and/or participants with high LDL-C [130 mg/dL] under statin therapy), assuming that any participant with FH exhibits at leats 1 trait, were selected and the LDLR, APOB, PCSK9, APOE, STAP1 and LDLRAP1 genes were sequenced by next generation sequencing technology.
Results: Of 5400 individuals from the AWHS, 4514 had complete data on lipid levels and lipid-lowering drugs, 255 participants (5.65%) met the criteria for suspicion of FH, 24 of them (9.41%) were diagnosed with hyperlipoproteinemia(a), and 16 (6.27% of those sequenced) were found to carry causative mutations in candidate genes: 12 participants carried 11 different pathogenic LDLR alleles and 4 participants carried 1 pathogenic mutation in PCSK9. LDL-C concentrations > 220 mg/dL and LDL-C > 130 mg/dL despite statin therapy showed the strongest association with the presence of mutations (P = .011).
Conclusions: Our results show that the prevalence of FH in Spain is 1:282 and suggest that the combination of high untreated LDL-C and high levels of LDL-C despite statin therapy are the best predictors of a positive FH genetic test.
000148185 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B14-7R$$9info:eu-repo/grantAgreement/ES/MINECO-ISCIII/CIBERCV$$9info:eu-repo/grantAgreement/ES/MINECO/PI15-01983$$9info:eu-repo/grantAgreement/ES/MINECO/PI18-01777
000148185 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000148185 592__ $$a0.385$$b2021
000148185 593__ $$aMedicine (miscellaneous)$$c2021$$dQ3
000148185 594__ $$a2.4$$b2021
000148185 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/submittedVersion
000148185 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, Fernando$$uUniversidad de Zaragoza
000148185 700__ $$0(orcid)0000-0001-6650-8294$$aMateo-Gallego, Rocío$$uUniversidad de Zaragoza
000148185 700__ $$0(orcid)0000-0003-3963-0846$$aLaclaustra, Martín$$uUniversidad de Zaragoza
000148185 700__ $$0(orcid)0000-0003-0604-5042$$aMoreno-Franco, Belén$$uUniversidad de Zaragoza
000148185 700__ $$0(orcid)0000-0001-5026-5144$$aTejedor, María Teresa$$uUniversidad de Zaragoza
000148185 700__ $$aPalacios, Lourdes
000148185 700__ $$aMartín, César
000148185 700__ $$aCenarro, Ana
000148185 7102_ $$11006$$2255$$aUniversidad de Zaragoza$$bDpto. Fisiatría y Enfermería$$cÁrea Enfermería
000148185 7102_ $$11001$$2420$$aUniversidad de Zaragoza$$bDpto. Anatom.,Embri.Genét.Ani.$$cÁrea Genética
000148185 7102_ $$11003$$2027$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Anatom.Embriol.Humana
000148185 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000148185 7102_ $$11011$$2615$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Medic.Prevent.Salud Públ.
000148185 773__ $$g74, 8 (2021), 664-673$$tRevista Española de Cardiología (English Edition)$$x1885-5857
000148185 8564_ $$s369525$$uhttps://zaguan.unizar.es/record/148185/files/texto_completo.pdf$$yPreprint
000148185 8564_ $$s2560741$$uhttps://zaguan.unizar.es/record/148185/files/texto_completo.jpg?subformat=icon$$xicon$$yPreprint
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000148185 951__ $$a2025-01-14-15:49:04
000148185 980__ $$aARTICLE