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.
Highlights
Catechol-O-methyl-transferase (COMT) is a major catabolic regulator of synaptic catecholamine neurotransmitters; this enzyme catalyzes the transfer of a methyl group to catecholamines and degrades dopamine, norepinephrine and epinephrine (Pivac et al, 2011)
Most COMT genetic association studies have focused on a particular single nucleotide polymorphism (SNP), the Val108/158Met polymorphism
The Met allele in this polymorphism is associated with a three- or four-fold decrease in COMT activity, whereas the Val allele is identified with its highest activity (Lachman et al, 1996)
Summary
Catechol-O-methyl-transferase (COMT) is a major catabolic regulator of synaptic catecholamine neurotransmitters; this enzyme catalyzes the transfer of a methyl group to catecholamines and degrades dopamine, norepinephrine and epinephrine (Pivac et al, 2011). Most COMT genetic association studies have focused on a particular single nucleotide polymorphism (SNP), the Val108/158Met polymorphism. This entails a common G to A transition in exon 4 of the COMT gene, producing a valine (Val) to methionine (Met) substitution at amino acid position 108 or 158 (Lee and Kim, 2011). S-COMT is the short version of the enzyme characterized by a change in an amino acid at position 108 (Val108Met), whereas MB-COMT is the long form which includes a change in an amino acid at position 158 (Val158Met) (Nedic et al, 2011)
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