000102087 001__ 102087
000102087 005__ 20220426091137.0
000102087 0247_ $$2doi$$a10.1016/j.medcli.2020.01.032
000102087 0248_ $$2sideral$$a118199
000102087 037__ $$aART-2020-118199
000102087 041__ $$aeng
000102087 100__ $$aLópez de Frutos, L.
000102087 245__ $$aAllelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients
000102087 260__ $$c2020
000102087 5060_ $$aAccess copy available to the general public$$fUnrestricted
000102087 5203_ $$aBackground: Cytochrome p450 is the main drug metabolic pathway. CYP2D6 is a highly polymorphic gene that encodes a cytochrome p450 enzyme with three activity levels: null, reduced and normal. Apart from another type of mutations CYP2D6 can suffer duplications and deletions of the entire gene. This is the pathway to metabolize one of the Gaucher disease treatments, whose dose administration is regulated according to the metabolizer phenotype, this being one of the administration limitations.
Objectives: The aim of this paper is to evaluate the allelic frequencies and the metabolizer status of Gaucher type 1 patients in the Spanish population and compare it with the general Spanish population and other Gaucher disease groups.
Methods: In this study, 109 type 1 Gaucher disease patients were analyzed with the xTAG®CYP2D6 kit to identify the CYP2D6 gene alleles.
Results: We observed that eighty-seven patients could be classified as extensive, 14 as intermediate, 6 as poor and 2 as ultra-rapid metabolizers. The allelic duplication frequency is 5.5% and deletion is 4.5%. The most common allele is wild-type and the second is the null *4 allele. Intermediate phenotype frequency is higher than expected (p < 0.05).
Conclusions: Our Spanish GD series shows an unexpected distribution of some alleles and phenotypic metabolizer status, in contrast to that previously reported in the Spanish population.
000102087 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000102087 590__ $$a1.725$$b2020
000102087 591__ $$aMEDICINE, GENERAL & INTERNAL$$b105 / 169 = 0.621$$c2020$$dQ3$$eT2
000102087 592__ $$a0.266$$b2020
000102087 593__ $$aMedicine (miscellaneous)$$c2020$$dQ3
000102087 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000102087 700__ $$aAlfonso, P.
000102087 700__ $$0(orcid)0000-0003-2388-1990$$aLahoz, C.
000102087 700__ $$aIrún, P.
000102087 700__ $$aGiraldo, P.
000102087 773__ $$g155, 12 (2020), 529-534$$pMed. clín.$$tMedicina Clinica$$x0025-7753
000102087 8564_ $$s331106$$uhttps://zaguan.unizar.es/record/102087/files/texto_completo.pdf$$yPostprint
000102087 8564_ $$s2295211$$uhttps://zaguan.unizar.es/record/102087/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000102087 909CO $$ooai:zaguan.unizar.es:102087$$particulos$$pdriver
000102087 951__ $$a2022-04-26-08:54:42
000102087 980__ $$aARTICLE