Pseudocholinesterase polymorphism in an Irish population

Pseudocholinesterase polymorphism, as an example of pharmacogenetics with important clinical implications, has been widely studied and documented. However, data on a sample Irish population is lacking. We sought to provide this.

In an assay involving Ellman's reaction, pseudocholinesterase activity, alone and with dibucaine or fluoride as an inhibitor, was quantified using propionylthiocholine iodide as substrate.

Pseudocholinesterase activities of 1.13-12.71 U/ml (mean +/- SD 6.74 +/- 2.04 U/ml) showed a normal distribution among our 116 healthy, non-medicated volunteers, aged 11-80 years (30.7 +/- 10.5 years) and weighing 46-114.6 kg (66.8 +/- 11.4 kg). However, dibucaine numbers from an inhibition study yielded a trimodal pattern consistent with the hypothesis of two allelic genes. Using an established nomenclature, 92 (79.3%) of our volunteers were homozygous for the usual form of the enzyme (E1uE1u). Of the 13 genotyped as E1uE1a, it is possible that 3 were misclassified and are probably E1kE1a. Only one volunteer was homozygous for the atypical form of the enzyme, with activity of 1.13 U/ml and dibucaine and fluoride number of 18.2 and 82.8, respectively.

The continuous variation in pseudocholinesterase activity and the trimodal pattern of dibucaine numbers are both in accord with observations in other population groups. Although dibucaine number yields a trimodal pattern, its use could lead to misclassification of some E1kE1a as E1uE1a.