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A New Genetic Variant in the Sp1 Binding Cis‐Element of Cholecystokinin Gene Promoter Region and Relationship to Alcoholism
Author(s) -
Harada Shoji,
Okubo Takehito,
Tsutsumi Mikihiro,
Takase Shinjiro,
Muramatsu Taro
Publication year - 1998
Publication title -
alcoholism: clinical and experimental research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.267
H-Index - 153
eISSN - 1530-0277
pISSN - 0145-6008
DOI - 10.1111/acer.1998.22.s3_part1.93s
Subject(s) - promoter , gene , cholecystokinin , genetics , biology , gene expression , receptor
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 prepro‐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.