Pathological gambling has been termed both the 'pure' and the 'hidden'
addiction, 'Pure' because it is not associated with the intake of any
addicting substance, and 'hidden' because it is an extension of a com
mon, socially accepted behaviour. The Taq A1 variant of the human DRD2
gene has been associated with drug addiction, some forms of severe al
coholism, and other impulsive, addictive behaviours, We have sought to
determine if there is a similar association with pathological gamblin
g, A total of 222 non-Hispanic Caucasian pathological gamblers from mu
ltiple sites across the US participated in the study, Of these 171 don
ated a sample of blood, 127 filled out several questionnaires, and 102
did both, Of the 171 pathological gamblers 50.9% carried the D(2)A1 a
llele versus 25.9% of the 714 known non-Hispanic Caucasian controls sc
reened to exclude drug and alcohol abuse, p < 0.00000001, odds ratio (
OR) = 2.96. For the 102 gamblers who filled out the questionnaires, 63
.8% of those in the upper half of the Pathological Gambling Score (mor
e. severe) carried the D(2)A1 allele (OR versus controls = 5.03), comp
ared to 40.9% in the lower half (less severe), Of those who had no com
orbid substance abuse, 44.1% carried the D(2)A1 allele, compared to 60
.5% of those who had comorbid substance abuse. Forty-eight controls an
d 102 gamblers completed a shorter version of the Pathological Gamblin
g Score. Of the 45 controls with a score of zero, 17.8% carried the D(
2)A1 allele. Of the 99 gamblers with a score of 5 or more, 52. 5% carr
ied the D(2)A1 allele (chi(2) = 15.36, P = 0.00009), These results sug
gest that genetic variants at the DRD2 gene play a role in pathologica
l gambling, and support the concept that variants of this gene are a r
isk: factor for impulsive and addictive behaviours.