A new genetic variant in the Sp1 binding cis-element of cholecystokinin gene promoter region and relationship to alcoholism

Shoji Harada, T. Okubo, M. Tsutsumi, S. Takase, T. Muramatsu

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Neuropeptide cholecystokinin (CCK) and the CCK receptors in the central nervous system mediate actions on increasing firings, anxiety, and nociceptions. Furthermore, CCK modulates the release of dopamine and dopamine-related behaviors in the mesolimbic pathway. In our study, genetic variation in the promoter and coding regions of the pre-pro-CCK gene were analyzed among 66 Japanese, 66 American Whites, 54 Chinese, and 41 Colombian natives. Two nucleotide sequence variants were found: a frequent mutation at nucleotide position -45 C to T involved in core sequence of Sp1 binding cis-element of the promoter region, and a C to T substitution at the 1662 position in intron 2. Analysis for the segregation study in 10 families of twins confirmed codominant heredity of two alleles. Distribution of genotypes and gene frequencies of 66 controls and 108 alcoholics in Japan presented that allelic variant T type in alcoholics was found in higher frequencies than that of controls, and distribution of these genotypes was significantly different between the both groups.

Original languageEnglish
Pages (from-to)93S-96S
JournalAlcoholism: Clinical and Experimental Research
Volume22
Issue number3 SUPPL. 1
Publication statusPublished - 1998 Jan 1

    Fingerprint

Keywords

  • Alcoholism
  • CCK gene
  • GC box
  • Genetic association
  • Polymorphism

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Toxicology
  • Psychiatry and Mental health

Cite this