We evaluated the FRMPD1 SNP rs4878712 for its regulatory potential via the University of Chicago eQTL, which identified this SNP as an eQTL for the F-box Protein 10 (FBXO10) gene in lymphoblastoid cells lines (LCL). Our further examination of the available Montgomery et al. RNA-sequencing data,[34] showed that the minor G allele, which reduced risk of HIV acquisition, significantly reduced exon 11 expression in FBXO10 (r = -0.49, P = 6.9 x 10-5). No other RNAseq data reporting results for FBXO10 and rs4878712 in LCL were publically available. Examining publically available micro-array gene expression data, we observed an independent corroborating inverse association between rs4878712 and FBXO10 in LCL for the gene expression probe ILM_2089616 located in exons 9/10 (β = -0.028, P = 0.0176; MuTHER resource[35,36]). However, no association was seen between rs4878712 and the FBXO10 probe ILM_1716952, which is located farther away in exons 4/5, in two independent datasets (the MuTHER resource P = 0.962; Stranger et al. 2012[37]; P = 0.567). The ILM_2089616 probe with suggestive corroborating evidence was not available in the Stranger et al. 2012 data.
