000148171 001__ 148171
000148171 005__ 20250114175434.0
000148171 0247_ $$2doi$$a10.1016/j.atherosclerosis.2019.11.025
000148171 0248_ $$2sideral$$a115763
000148171 037__ $$aART-2020-115763
000148171 041__ $$aeng
000148171 100__ $$0(orcid)0000-0002-9647-0108$$aLamiquiz-Moneo, I.
000148171 245__ $$aPredicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia
000148171 260__ $$c2020
000148171 5060_ $$aAccess copy available to the general public$$fUnrestricted
000148171 5203_ $$aBackground and aims: Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR, APOB and PCSK9. Two new putative loci causing FH have been identified recently, the p.(Leu167del) mutation in APOE and new mutations in the signal transducing adaptor family member STAP1. We aimed at investigating the role of STAP1 mutations in the etiology of FH. Methods: We sequenced LDLR, APOB, PCSK9, LDLRAP1, APOE, LIPA and STAP1 with the LipidInCode platform in 400 unrelated subjects from Spain with a clinical diagnosis of FH. All subjects carrying rare predicted pathogenic variants in STAP1 gene, described as pathogenic by at least three bioinformatic analysis and having an allelic frequency lower than 1% in general population, were selected for family study. Available relatives were recruited, including both hypercholesterolemic and non-hypercholesterolemic family members. Results: Sequencing analysis of STAP1 gene revealed seventeen rare variants, four of them being described as pathogenic by bioinformatic analysis. We studied the cosegregation with hypercholesterolemia of four rare predicted pathogenic variants, c.-60A > G, p.(Arg12His), p.(Glu97Asp), p.(Pro176Ser) in seven families. We did not observe any cosegregation between genotype and phenotype, even carriers of rare variants in STAP1 had lower LDL cholesterol levels than non-carriers. Conclusions: This study analyzes the family cosegregation of four rare predicted pathogenic variants of STAP1, p.(Arg12His), p.(Glu97Asp), p.(Pro176Ser) and c.-60A > G, in seven families, showing absence of cosegregation in all of them. These results would suggest that STAP1 gene is not involved in hypercholesterolemia of these families.
000148171 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B14-17R$$9info:eu-repo/grantAgreement/ES/MINECO/PI18-01777
000148171 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000148171 590__ $$a5.162$$b2020
000148171 591__ $$aPERIPHERAL VASCULAR DISEASE$$b14 / 65 = 0.215$$c2020$$dQ1$$eT1
000148171 591__ $$aCARDIAC & CARDIOVASCULAR SYSTEMS$$b43 / 141 = 0.305$$c2020$$dQ2$$eT1
000148171 592__ $$a1.554$$b2020
000148171 593__ $$aCardiology and Cardiovascular Medicine$$c2020$$dQ1
000148171 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000148171 700__ $$aRestrepo-Córdoba, M.A.
000148171 700__ $$0(orcid)0000-0001-6650-8294$$aMateo-Gallego, R.$$uUniversidad de Zaragoza
000148171 700__ $$aBea, A.M.
000148171 700__ $$adel Pino Alberiche-Ruano, M.
000148171 700__ $$aGarcía-Pavía, P.
000148171 700__ $$aCenarro, A.
000148171 700__ $$aMartín, C.
000148171 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, F.$$uUniversidad de Zaragoza
000148171 700__ $$aSánchez-Hernández, R.M.
000148171 7102_ $$11006$$2255$$aUniversidad de Zaragoza$$bDpto. Fisiatría y Enfermería$$cÁrea Enfermería
000148171 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000148171 773__ $$g292 (2020), 143-151$$pAtherosclerosis$$tAtherosclerosis$$x0021-9150
000148171 8564_ $$s6917171$$uhttps://zaguan.unizar.es/record/148171/files/texto_completo.pdf$$yPostprint
000148171 8564_ $$s1845852$$uhttps://zaguan.unizar.es/record/148171/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000148171 909CO $$ooai:zaguan.unizar.es:148171$$particulos$$pdriver
000148171 951__ $$a2025-01-14-15:48:46
000148171 980__ $$aARTICLE