Associated with Heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1) exon 8 alternative splicing. Study presents evidence that it is a sterol-regulated splicing factor that binds to HMGCR binding motif at rs3846662 in turn modulating its alternative splicing. Consistent with this evidence, rs1920045 AA homozygote minor allele was found to modestly reduce the effectiveness of statins in lowering total plasma cholesterol in two independent clinical trials, CAP and PRINCE (P=0.006 combined)[[1]]. The study notes this SNP is in LD with HNRPA1 promoter region, and therefore likely just tags the causal variant within the promoter region.
[PMID 24001602
] HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism
] HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism
