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Chunk #17 — Results — Total CHRNA5 mRNA level in frontal cortex is strongly associated with variants located upstream of the gene in individuals of both African and European ancestry

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Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry.
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To further investigate eQTLs within and flanking the CHRNA5 gene, we genotyped twenty additional SNPs including 2 variants (rs601079, rs615470) that are associated with CHRNA5 total mRNA expression levels in brain tissues of European ancestry reported in our previous study [20], 5 tag SNPs (rs55853698, rs16969968, rs578776, rs3743078, rs6495308) from different LD bins in the CHRNA5-A3-B4 gene cluster [19], and 12 SNPs highly correlated with rs880395 in the European population (r2 = 0.9). The linear regression results with postmortem interval as a covariate showed that the most significant variants associated with altered mRNA expression levels are located upstream of the CHRNA5 transcript (Table 1).