Phenotype and genotype of thiopurine methyltransferase in Chilean individuals

Simple item page
dc.contributor.authorJorquera, Andres
dc.contributor.authorSolari, Sandra
dc.contributor.authorVollrath, Valeska
dc.contributor.authorGuerra, Irene
dc.contributor.authorChianale, Jose
dc.contributor.authorCofre, Colomba
dc.contributor.authorKalergis, Alexis
dc.contributor.authorIbanez, Patricio
dc.contributor.authorBueno, Susan
dc.contributor.authorAlvarez Lobos, Manuel
dc.date.accessioned2024-01-10T13:16:13Z
dc.date.available2024-01-10T13:16:13Z
dc.date.issued2012
dc.description.abstractBackground: Thiopurines (azathioprine and 6-mercaptopurine) are highly effective medications but with potential adverse effects. Thiopurine methyltransferase (TMPT) is the key enzyme in their pharmacokinetics and is genetically regulated. A low activity of TPMT is associated with myelotoxicity. The genotype and enzyme activity can vary by ethnicity. Aim: To study the activity and genotype of TPMT in a group of Chilean subjects. Material and Methods: In 200 healthy adult blood donors, TPMT activity was determined by high performance liquid chromatography (HPLC). Deficient, low, normal or high levels were defined when enzymatic activity was <= 5, 6-24, 25-55 and >= 56 nmol/grHb/h, respectively. Genotyping of TPMT ((star)1, (star)2, (star)3A, (star)3B, (star)3C) was performed by PCR. Results: Seventy seven women (38.5%) and 123 men (61.5%), with an average age of 34.9 years were studied. Eighteen subjects (9%) had a low enzymatic activity, 178 (89%) had normal activity, 4 (2%) had high activity and no genotype deficient subjects were identified. The wild type genotype ((star)1) was found in 184 (92%) individuals and 16 (8%) were heterozygous for the variants: (star)2 (n = 2), (star)3A (n = 13) and (star)3C (n = 1). No homozygous subjects for these variants were identified. Wild type genotype had an increased enzymatic activity (40.8 +/- 7.2 nmol/gHb/h) compared to heterozygous group (21.2 +/- 3 nmol/gHb/h; p < 0.001). Conclusions: Less than 10% of a Chilean population sample has a low enzymatic activity or allelic variants in the TPMT gene, supporting the use of thiopurines according to international recommendations. (Rev Med Chile 2012; 140: 889-895).
dc.fechaingreso.objetodigital2024-05-28
dc.format.extent7 páginas
dc.fuente.origenWOS
dc.identifier.doi10.4067/S0034-98872012000700009
dc.identifier.eissn0717-6163
dc.identifier.issn0034-9887
dc.identifier.pubmedidMEDLINE:23282701
dc.identifier.urihttps://doi.org/10.4067/S0034-98872012000700009
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/78568
dc.identifier.wosidWOS:000308280100009
dc.information.autorucMedicina;Alvarez M ;S/I;6131
dc.information.autorucCiencias Biológicas;Bueno S ;S/I;113541
dc.information.autorucMedicina;Chianale J;S/I;99780
dc.information.autorucMedicina;Cofre C;S/I;87671
dc.information.autorucMedicina;Guerra I ;S/I;117495
dc.information.autorucMedicina;Ibanez P ;S/I;135641
dc.information.autorucMedicina;Jorquera A ;S/I;152756
dc.information.autorucCiencias Biológicas;Kalergis A ;S/I;90610
dc.information.autorucMedicina;Solari S ;S/I;1871
dc.information.autorucCiencias Biológicas;Vollrath V;S/I;2185
dc.issue.numero7
dc.language.isoes
dc.nota.accesoContenido completo
dc.pagina.final895
dc.pagina.inicio889
dc.publisherSOC MEDICA SANTIAGO
dc.revistaREVISTA MEDICA DE CHILE
dc.rightsacceso abierto
dc.subjectDrug hypersensitivity
dc.subjectChile
dc.subjectGentype
dc.subjectTPMT deficiency
dc.subjectPhenotype
dc.subjectINFLAMMATORY-BOWEL-DISEASE
dc.subjectS-METHYLTRANSFERASE
dc.subjectAZATHIOPRINE
dc.subjectPHARMACOGENETICS
dc.subject6-MERCAPTOPURINE
dc.subject6-THIOGUANINE
dc.subjectINHERITANCE
dc.subjectMANAGEMENT
dc.subjectDEFICIENCY
dc.subjectSUBSTRATE
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePhenotype and genotype of thiopurine methyltransferase in Chilean individuals
dc.typeartículo
dc.volumen140
sipa.codpersvinculados6131
sipa.codpersvinculados113541
sipa.codpersvinculados99780
sipa.codpersvinculados87671
sipa.codpersvinculados117495
sipa.codpersvinculados135641
sipa.codpersvinculados152756
sipa.codpersvinculados90610
sipa.codpersvinculados1871
sipa.codpersvinculados2185
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Phenotype and genotype of thiopurine methyltransferase in Chilean individuals.pdf
Size:
143.59 KB
Format:
Adobe Portable Document Format
Description:
Download
Collections
Artículos de revistas