noted to the gene DFNA5, previously implicated in familial deafness16 and a target of promoter methylation in gastric cancer17. Other notable genes with directional effect include MCOLN2, encoding a cation channel involved in type I interferon responses18, and SELL (also known as L-selectin, CD62L). The latter is of particular interest given the role of this cell surface receptor in monocyte recruitment to lymphoid tissues during inflammation19 and previous association of this region with amyotrophic lateral sclerosis20. We did not observe the reported association with KIFAP3 expression in LCLs20 but note the disease associated variants show a cell directional effect with the neighboring gene SELL. Real-time PCR quantification of DFNA5 and SELL on further RNA purified from randomly selected homozygous individuals (DFNA5 n=16; SELL n=20-28) confirmed these directional effects were not a product of array-mediated artifact (Supplementary Figure 3h,i).
