No association of the structural dopamine D2 receptor (DRD2) variant (311)Cys with alcoholism

The human dopamine D2 receptor (DRD2) has been implied in the vulnerability for alcoholism and/or the modification of its severity. This is supported through animal experimental and pharmacological data. We analyzed the DRD2 (311)Ser/Cys polymorphism in 312 German alcoholics and 131 ethnically matched controls to investigate the association of genetic DRD2 variants with alcoholism or clinical characteristics of homogeneous subgroups of alcoholics. We observed no association between the (311)Cys variant and alcoholism, and none of the clinical characteristics evaluated was significantly associated with (311)Cys. The allele frequencies of the (311)Cys variant were 0.026 and 0.031 in the alcoholics and controls, respectively. These are the highest reported (311)Cys frequencies in Caucasians. The DRD2 TaqI A1/A2 restriction fragment length polymorphism was analyzed simultaneously in our samples. In most cases, the (311)Cys allele is associated with the TaqI A2-allele. Data do not suggest a clinical relevance of the (311)Cys variant in alcoholism. However, the relevance of this variant in other diseases or the existence of other DRD2 variants with altered receptor function or expression cannot be excluded.