IDENTIFICATION OF A NATURALLY-OCCURRING PRO(15)-SER(15) SUBSTITUTION IN THE SEROTONIN(5A) RECEPTOR GENE IN ALCOHOLICS AND HEALTHY-VOLUNTEERS

We screened the serotonin(5A) receptor gene coding region in 186 unrel ated alcoholic patients and 187 controls. A relatively abundant amino acid substitution and two synonymous DNA substitutions were detected. Two synonymous variants, A12T and C789T, had rarer-allele frequencies of 23% and 1%, respectively. The Pro15Ser substitution is located in t he amino terminal, extracellular domain of the receptor adjacent to a putative phosphorylation site. Pro15Ser had rarer-allele frequencies o f 8.1% and 5.9% in Finnish alcoholic patients and controls, respective ly (p = n.s.). (C) 1998 Elsevier Science B.V. All rights reserved.