![]() Jerry Stitzel will share exciting new findings from mouse genetic studies which support human genetic evidence for gene-gene interaction between CHRNA5 and CHRNA4. Ryan Smith has conducted experiments demonstrating allelespecific mRNA expression of the CHRNA5, providing insight into underlying mechanisms which may regulate gene expression. Marissa Ehringer will present human genetic data illustrating a possible role of these genes in general disinhibitory behaviors, and in vitro molecular genetic studies of specific SNPs. Richard Grucza will provide human genetic data supporting the hypothesis that the RISK allele of rs16969968 for nicotine dependence is a PROTECTIVE allele for cocaine dependence. Progress toward understanding the molecular complexity of the CHRNA5/A3/B4 region and its contribution toward specific drug-related “endophenotypes” will be presented through four ongoing projects. Functional work has provided evidence that the risk allele at rs16969968 which changes an amino acid in CHRNA5 leads to decreased response to a nicotine agonist, but it remains unclear what functional SNP(s) might underlie the other genetic signals, and how these different loci may interact within this cluster and/or across other CHRN genes. Furthermore, a dense coverage of single nucleotide polymorphisms (SNPs) in all CHRN genes has identified multiple distinct loci (independent signals) in the CHRNA5/A3/B4 cluster. In addition, it has been associated with alcohol dependence, level of response to alcohol, and cocaine dependence. The CHRNA5/A3/B4 gene cluster region on human chromosome 15 has been associated with smoking-related behaviors and/or smoking-related diseases in multiple studies, including age of initiation, “pleasurable buzz” during early experimentation with smoking, cigarettes per day, age-dependent nicotine dependence, nicotine dependence, and lung cancer.
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