000168715 001__ 168715
000168715 005__ 20260218132343.0
000168715 0247_ $$2doi$$a10.1016/s0021-9150(02)00190-9
000168715 0248_ $$2sideral$$a52039
000168715 037__ $$aART-2002-52039
000168715 041__ $$aeng
000168715 100__ $$aCastillo, S.
000168715 245__ $$aThe apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia.
000168715 260__ $$c2002
000168715 5060_ $$aAccess copy available to the general public$$fUnrestricted
000168715 5203_ $$aFamilial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) are autosomal codominant diseases characterized by elevated LDL cholesterol levels and premature coronary artery disease. Mutations of the LDL-receptor and apolipoprotein B genes, which affect the binding domains of their protein products, are the causal defects. Securing the diagnosis of these conditions by molecular assays is important because it mandates early intervention for coronary risk reduction. DNA screening for apolipoprotein B R3500Q gene mutation was performed in 913 unrelated Spanish individuals with a clinical diagnosis of FH using a modified polymerase chain reaction protocol and restriction enzyme genotyping. Thirteen FDB heterozygotes were identified (frequency of 1.4% in subjects with a clinical diagnosis of FH). The prevalence of hypercholesterolemic subjects with FDB in the general Spanish population was estimated to be as low as 2.8×10−5 (95% CI, −3.1×10−4 to 3.7×10−4). The ancestors of 11 out of 13 FDB carriers were from Galicia, a region of Celtic ancestry in Northwestern Spain. As the series included 100 unrelated subjects of Galician ancestry, FDB appears to be an important genetic cause of hypercholesterolemia in this region. All the R3500Q mutations were found on the same allele, assigned to haplotype XbaI−/MspI+/EcoRI−/3HVR48, suggesting that the mutant alleles are identical by descent in people from Spain, as observed in other Caucasian populations. In conclusion, the R3500Q mutation of the apolipoprotein B gene, a common cause of FH in central Europe, is infrequent in the general Spanish population, but it is common in Galicia.
000168715 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttps://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
000168715 590__ $$a3.333$$b2002
000168715 591__ $$aPERIPHERAL VASCULAR DISEASE$$b12 / 51 = 0.235$$c2002$$dQ1$$eT1
000168715 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000168715 700__ $$aTejedor, D.
000168715 700__ $$0(orcid)0000-0001-5956-4319$$aMozas, P.$$uUniversidad de Zaragoza
000168715 700__ $$aReyes, G.
000168715 700__ $$aCiveira, F.
000168715 700__ $$aAlonso, R.
000168715 700__ $$aRos, E.
000168715 700__ $$0(orcid)0000-0001-8807-9187$$aPocovi, M.$$uUniversidad de Zaragoza
000168715 700__ $$aMata, P.
000168715 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000168715 773__ $$g165, 1 (2002), 127-135$$pAtherosclerosis$$tAtherosclerosis$$x0021-9150
000168715 8564_ $$s778338$$uhttps://zaguan.unizar.es/record/168715/files/texto_completo.pdf$$yPostprint
000168715 8564_ $$s2194081$$uhttps://zaguan.unizar.es/record/168715/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000168715 909CO $$ooai:zaguan.unizar.es:168715$$particulos$$pdriver
000168715 951__ $$a2026-02-18-12:27:30
000168715 980__ $$aARTICLE