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Chunk #27 — Results — Ethanol treatment changes the ASE in SNPs of interest

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Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders.
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16), and one is in SMPD4 (sphingomyelin phosphodiesterase 4). The SNP with the smallest p-value in each gene is shown in Fig. 4 (the other three SNPs are shown in Supplementary Fig. 4). For five of these six SNPs, the effects of acute ethanol treatment were in the opposite direction of that seen in the brains of subjects with AUD. For example, the variant rs45474901 allele in the 3′UTR of TMEM25 exhibited higher expression in the PASSPORT-seq assay and in SFC of heterozygous subjects with AUD, but lower expression after ethanol exposure in SK-N-BE(2) cells. Conversely, for rs1968676, a SNP in SMPD4, and rs2950846, a SNP in PCDHB16, the variant alleles were expressed at lower levels in AUD subjects and in PASSPORT-seq but at higher levels after ethanol treatment.