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COMT 基因 Val108/158Met 多态性在健康墨西哥人群中的分布。

Distribution of the Val108/158Met polymorphism of the COMT gene in healthy Mexican population.

机构信息

Universidad Juárez Autónoma de Tabasco, División Académica de Ciencias de la Salud, Villahermosa, Tabasco, Mexico.

出版信息

Gene. 2013 Sep 10;526(2):454-8. doi: 10.1016/j.gene.2013.05.068. Epub 2013 Jun 14.

DOI:10.1016/j.gene.2013.05.068
PMID:23774690
Abstract

Catechol-O-methyltransferase (COMT) inactivates the catecholamines adrenaline, noradrenaline and dopamine. On the other hand, some studies have reported that the enzymatic activity of COMT is partly genetically determined. With regard to the COMT gene, the most studied polymorphism is the functional variant Val108/158Met (rs4680), which results in substantial three- to four-fold variations in enzyme activity. To date, the rs4680 polymorphism of COMT has been associated with a number of disorders. In addition, this polymorphism has been found to have important differences in frequency according to the studied population. Therefore, the aim of the present study was to evaluate the frequency of a common single nucleotide polymorphism (SNP) Val108/158Met of the COMT gene in the Mexican population. Accordingly, we recruited 431 healthy volunteers. Our sample consisted of 111 healthy individuals from Mexico City and 320 individuals from the state of Tabasco, Mexico. We observed that Met was the most common allele, ranging from 57% (Tabasco) to 85% (Mexico City). In addition, we analyzed the frequency of Val108/158Met polymorphism of Caucasian (54% Met allele), Asian (29% Met allele) and African (34% Met allele) populations separately and also in comparison with Mexican (63% Met allele) population. In conclusion, the distribution of the Val108/158Met polymorphism distinguishes the Mexican population studied from other populations, but it is necessary to increase the size of the sample to get more conclusive results.

摘要

儿茶酚-O-甲基转移酶(COMT)使儿茶酚胺肾上腺素、去甲肾上腺素和多巴胺失活。另一方面,一些研究报道 COMT 的酶活性部分由遗传决定。关于 COMT 基因,研究最多的多态性是功能性变体 Val108/158Met(rs4680),它导致酶活性有三到四倍的显著变化。迄今为止,COMT 的 rs4680 多态性与许多疾病有关。此外,这种多态性在不同的研究人群中发现存在重要的频率差异。因此,本研究旨在评估 COMT 基因常见单核苷酸多态性(SNP)Val108/158Met 在墨西哥人群中的频率。为此,我们招募了 431 名健康志愿者。我们的样本包括来自墨西哥城的 111 名健康个体和来自墨西哥塔巴斯克州的 320 名个体。我们观察到 Met 是最常见的等位基因,范围从 57%(塔巴斯克州)到 85%(墨西哥城)。此外,我们分别分析了白种人(54% Met 等位基因)、亚洲人(29% Met 等位基因)和非洲人(34% Met 等位基因)人群中 Val108/158Met 多态性的频率,并与墨西哥(63% Met 等位基因)人群进行了比较。总之,Val108/158Met 多态性的分布将所研究的墨西哥人群与其他人群区分开来,但需要增加样本量以获得更具结论性的结果。

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