墨西哥梅斯蒂索健康志愿者中与抗癫痫药物治疗相关基因的等位基因和基因型频率。
Allele and genotype frequencies of genes relevant to anti-epileptic drug therapy in Mexican-Mestizo healthy volunteers.
作者信息
Fricke-Galindo Ingrid, Ortega-Vázquez Alberto, Monroy-Jaramillo Nancy, Dorado Pedro, Jung-Cook Helgi, Peñas-Lledó Eva, LLerena Adrián, López-López Marisol
机构信息
Doctorate in Biological & Health Sciences, Metropolitan Autonomous University, Campus Xochimilco, Mexico City, Mexico.
Department of Biological Systems, Metropolitan Autonomous University, Campus Xochimilco, Mexico City, Mexico.
出版信息
Pharmacogenomics. 2016 Nov;17(17):1913-1930. doi: 10.2217/pgs-2016-0078. Epub 2016 Oct 28.
AIM
To determine allele and genotype frequencies of genes influencing anti-epileptic drug therapy in Mexican-Mestizo (MM) healthy volunteers, and to evaluate whether these are different from those reported for other populations.
SUBJECTS & METHODS: Thirty-nine variants of CYP3A5, EPHX1, NR1I2, HNF4A, UGT1A1, UGT2B7, ABCC2, RALBP1, SCN1A, SCN2A and GABRA1 were genotyped in 300 MM healthy volunteers.
RESULTS
All studied alleles were presented in MM, except for seven UGT1A1 variants (*6-8, 14, 15, 27 and 29). Allele and genotype frequencies showed interethnic variations when compared with European, Asian and African populations. Allele frequencies of greater than 30% were observed in ten genes.
CONCLUSION
The results presented regarding the frequencies and interethnic differences of these polymorphisms should be taken into account for future pharmacogenetic studies of anti-epileptic drugs in MM patients with epilepsy.
目的
确定影响墨西哥梅斯蒂索（MM）健康志愿者抗癫痫药物治疗的基因的等位基因和基因型频率，并评估这些频率是否与其他人群报告的频率不同。
受试者与方法
对300名MM健康志愿者的CYP3A5、EPHX1、NR1I2、HNF4A、UGT1A1、UGT2B7、ABCC2、RALBP1、SCN1A、SCN2A和GABRA1这39个变体进行基因分型。
结果
除了7个UGT1A1变体（*6 - 8、14、15、27和29）外，所有研究的等位基因在MM人群中均有出现。与欧洲、亚洲和非洲人群相比，等位基因和基因型频率显示出种族间差异。在10个基因中观察到等位基因频率大于30%。
结论
在未来对患有癫痫的MM患者进行抗癫痫药物的药物遗传学研究时，应考虑这些多态性的频率和种族间差异的研究结果。
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