Mutation screening of the 5-hydroxytryptamine7 receptor gene among Finnish alcoholics and controls

Psychiatry Res. 1998 Feb 27;77(3):139-45. doi: 10.1016/s0165-1781(98)00005-5.

Abstract

Impaired central serotonin neurotransmission has been associated with increased aggression, impaired impulse control and diurnal activity rhythm disturbances among humans. Neuroanatomic distribution and pharmacological properties of the serotonin 5-HT7 receptor suggest that it may play a role in psychiatric disorders and in circadian rhythm regulation. In this study a point mutation causing proline279 --> leucine amino acid substitution in the 5-hydroxytryptamine7 (5-HT7) receptor gene was discovered. This 5-HT7Leu279 variant was observed in six of 825 individuals, all of whom are heterozygous for the substitution. Three of them are alcoholic offenders (3/255), two are relatives of an offender without the 5-HT7Leu279 allele (2/255) and one is a healthy control without any psychiatric diagnosis (1/248). The allele frequency of the 5-HT7Leu279 variant is 0.004 (6/758) among Finns. Although the 5-HT7Leu279 variant is approximately three times more common among alcoholic offenders than among healthy controls, it is not significantly associated with alcoholism or impulsivity in the present study. The 5-HT7Leu279 allele may, however, be a predisposing allele in a subgroup of alcoholic offenders with multiple behavioral problems.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alcoholism / genetics*
  • Alleles
  • Amino Acid Substitution / genetics
  • DNA Mutational Analysis*
  • Female
  • Finland
  • Gene Frequency / genetics
  • Genetic Testing*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Point Mutation / genetics
  • Polymorphism, Genetic
  • Receptors, Serotonin / genetics*

Substances

  • Receptors, Serotonin
  • serotonin 7 receptor