Céspedes-Garro Carolina, Jiménez-Arce Gerardo, Naranjo María-Eugenia G, Barrantes Ramiro, Llerena Adrián
Rev Biol Trop. 2014 Dec;62(4):1659-71.
CYP2D6 differences have already been demonstrated within Latin American populations by the CEIBA.FP Consortium of the Ibero-American Network of Pharmacogenetics (RIBEF, as per the acronym in Spanish). However, within the population of Costa Rica, no research has been conducted until now, even though this population has a trihybrid component ancestry that represents an interesting condition. Thus, the present study was aimed to determine the frequency of Ultra-rapid Metabolizers (UMs) and Poor Metabolizers (PMs) in a Costa Rican population, as well as to determine whether there are differences in the CYP2D6-predicted phenotype frequencies among three Costa Rican groups with different ethnic backgrounds. Additionally, these frequencies of PMs and UMs obtained were compared with Ibero-American populations published data. Finally, we also aimed to describe allele frequencies among different Costa Rican ethnic groups. This research has been undertaken within the framework of the RIBEF CEIBA Consortium studies on Latin American populations. A total of 385 individuals were included in the study: 139 mestizos, 197 Amerindians, and 49 Afro-Caribbeans. CYP2D6 genotypes were determined by XL-PCR and Real-Time PCR. The CYP2D6 variant alleles *2, *3, *4, *5, *6, *10, "17, *29, *35 and *41 were also determined. For the entire Costa Rican population, the frequency of PMs and UMs was 6% and 6.5%, respectively. The percentage of UMs in the mestizo population was higher than in the Amerindian population. CYP2D6 UMs vary from 3.6% to 10.1% and PMs from 1.4% to 10.2% among three Costa Rican groups. The highest frequencies of UMs (10.1%) and PMs (10.2%) were found in the mestizo and Amerindian populations, respectively. In conclusion, the frequencies of UMs and PMs for CYP2D6 varied widely across the mestizo, Amerindian and Afro-Caribbean Costa Rican populations. Future research in this population should be oriented to identify new CYP2D6 variants through sequencing methods, as well as to determine CYP2D6 phenotype, in order to establish the phenotype-genotype relation. Finally, further studies involving genetic markers of ancestry are needed in the Costa Rican population.
伊比利亚美洲药物遗传学网络（西班牙语简称为RIBEF）的CEIBA.FP联盟已经证实拉丁美洲人群中存在CYP2D6差异。然而，在哥斯达黎加人群中，尽管该人群具有三杂交成分血统，这是一个有趣的情况，但迄今为止尚未进行相关研究。因此，本研究旨在确定哥斯达黎加人群中超快速代谢者（UMs）和慢代谢者（PMs）的频率，并确定在三个具有不同种族背景的哥斯达黎加人群组中，CYP2D6预测表型频率是否存在差异。此外，将获得的这些PMs和UMs频率与伊比利亚美洲人群的已发表数据进行比较。最后，我们还旨在描述不同哥斯达黎加种族群体中的等位基因频率。本研究是在RIBEF CEIBA联盟关于拉丁美洲人群的研究框架内进行的。共有385人纳入研究：139名混血儿、197名美洲印第安人和49名非裔加勒比人。通过XL-PCR和实时PCR确定CYP2D6基因型。还确定了CYP2D6变异等位基因*2、*3、*4、*5、*6、*10、*17、*29、35和41。对于整个哥斯达黎加人群，PMs和UMs的频率分别为6%和6.5%。混血人群中UMs的百分比高于美洲印第安人群体。在三个哥斯达黎加人群组中，CYP2D6 UMs的比例从3.6%到10.1%不等，PMs的比例从1.4%到10.2%不等。UMs（10.1%）和PMs（10.2%）的最高频率分别出现在混血人群和美洲印第安人群体中。总之，CYP2D6的UMs和PMs频率在哥斯达黎加的混血儿、美洲印第安人和非裔加勒比人群体中差异很大。该人群未来的研究应侧重于通过测序方法鉴定新的CYP2D6变异体，以及确定CYP2D6表型，以建立表型-基因型关系。最后，哥斯达黎加人群需要进一步开展涉及祖先遗传标记的研究。
