caa a22 4500 378849352 CHVBK 20180305123319.0 cr unu---uuuuu 161128e20030919xx s 000 0 eng 10.1515/CCLM.2003.206 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2003.206 CYP3A4 and MDR1 Alleles in a Portuguese Population [Elektronische Daten] [Isa Cavaco, J. Pedro Gil, Eva Gil-Berglund, Vera Ribeiro] Polymorphisms in cytochrome P450 CYP3A4 and multidrug resistance (MDR)1 genes coding for the important drugmetabolising CYP3A4 and the ATP-binding cassette (ABC) transporter P-glycoprotein (Pgp) are poorly documented in the Portuguese population. In this study we have determined the frequencies of CYP3A4 and MDR1 alleles in Portuguese Caucasians. Both genes were simultaneously analysed as these genes are known to be frequently co-induced and their products to show a pronounced overlap of substrates. CYP3A4 A-392G (CYP3A4*1B), T673C (CYP3A4*2) and MDR1 T-129C, G2677T and C3435T single nucleotide polymorphisms (SNPs) were analysed in 100 individuals from the southern region of the country. We observed a frequency of 4.0% for CYP3A4*1B, not significantly different from that reported on other Caucasian European populations. CYP3A4*2 was found at an allele frequency of 4.5%, constituting the first report of the presence of this allele outside the Finnish population. Significant differences were found concerning the MDR1 C3435T SNP frequency (64.5%) compared with other European populations, while no differences were found concerning G2677T (47.5%) or T-129C (5%) SNPs. Linkage between the C3435T and G2677T SNPs was observed, although not as evidently as documented in other Caucasian populations. No preferential associations were detected between CYP3A4 and MDR1 alleles. Clin Chem Lab Med 2003; 41(10):13451350 Copyright © 2003 by Walter de Gruyter GmbH & Co. KG Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence Cavaco Isa aut Gil J. Pedro aut Gil-Berglund Eva aut Ribeiro Vera aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/10(2003-09-19), 1345-1350 1434-6621 41:10<1345 2003 41 cclm https://doi.org/10.1515/CCLM.2003.206 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2003.206 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Cavaco Isa aut NATIONALLICENCE 700 1- Gil J. Pedro aut NATIONALLICENCE 700 1- Gil-Berglund Eva aut NATIONALLICENCE 700 1- Ribeiro Vera aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/10(2003-09-19), 1345-1350 1434-6621 41:10<1345 2003 41 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter