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

研究成果: Article査読

21 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)93S-96S
ジャーナルAlcoholism: Clinical and Experimental Research
22
3 SUPPL. 1
出版ステータスPublished - 1998 1月 1
外部発表はい

ASJC Scopus subject areas

  • 医学(その他)
  • 毒物学
  • 精神医学および精神衛生

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