Article
Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry.
PloS one - 1 Jan 2013
Wang Jen-Chyong, Spiegel Noah, Bertelsen Sarah, Le Nhung, McKenna Nicholas, Budde John P, Harari Oscar, Kapoor Manav, Brooks Andrew, Hancock Dana, Tischfield Jay, Foroud Tatiana, Bierut Laura J, Steinbach Joe Henry, Edenberg Howard J, Traynor Bryan J, Goate Alison M
Abstract excerpt
Variants within the gene cluster encoding α3, α5, and β4 nicotinic receptor subunits are major risk factors for substance dependence. The strongest impact on risk is associated with variation in the CHRNA5 gene, where at least two mechanisms are at work: amino acid variation and altered mRNA expression levels. The risk allele of the non-synonymous variant (rs16969968; D398N) primarily occurs on the haplotype...
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