KIAA0040 on Chr1 has long been considered to be a LincRNA until recently when it was reported to code for an HLA-DR11-restricted T-cell epitope. It is expressed in multiple tissues and organs including brain. In the present study, all significant risk SNPs at KIAA0040 had significant eQTL signals in human lymphoblastoid cell lines. Bioinformatics analysis also supported that these variants might regulate the gene expression. TNN and TNR flank KIAA0040. TNN, which encodes tenascin-N, is involved in neurite outgrowth and cell migration in hippocampal explants. TNR, which encodes tenascin-R, is an extracellular matrix protein expressed primarily in the central nervous system and has been related to multiple brain diseases. KIAA0040 is close to ASTN1 that has been associated with alcohol dependence or substance dependence by two studies (65, 66). ASTN1 has also been implicated in autism, schizophrenia, bipolar disorder and attention deficit hyperactivity disorder (ADHD) (reviewed by Hill et al. (66) 2012).
