U. Finckh et al., NO ASSOCIATION OF THE STRUCTURAL DOPAMINE D2 RECEPTOR (DRD2) VARIANT (311)CYS WITH ALCOHOLISM, Alcoholism, clinical and experimental research, 20(3), 1996, pp. 528-532
The human dopamine D2 receptor (DRD2) has been implied in the vulnerab
ility for alcoholism and/or the modification of its severity. This is
supported through animal experimental and pharmacological data. We ana
lyzed the DRD2 (311)Ser/Cys polymorphism in 312 German alcoholics and
131 ethnically matched controls to investigate the association of gene
tic DRD2 variants with alcoholism or clinical characteristics of homog
eneous subgroups of alcoholics. We observed no association between the
(311)Cys variant and alcoholism, and none of the clinical characteris
tics evaluated was significantly associated with (311)Cys. The allele
frequencies of the (311)Cys variant were 0.026 and 0.031 in the alcoho
lics and controls, respectively. These are the highest reported (311)C
ys frequencies in Caucasians. The DRD2 TaqI A1/A2 restriction fragment
length polymorphism was analyzed simultaneously in our samples. In mo
st cases, the (311)Cys allele is associated with the TaqI A2-allele. D
ata do not suggest a clinical relevance of the (311)Cys variant in alc
oholism. However, the relevance of this variant in other diseases or t
he existence of other DRD2 variants with altered receptor function or
expression cannot be excluded.