Fourth, 13 of the 22 regions in Table 3 contain long intergenic non-coding RNAs (lincRNAs). lincRNAs have multiple known or suspected functions including epigenetic regulation and development. 47 Using pathway analysis,48 there was modest enrichment (P=0.06) for smaller association P values in a conservative set of lincRNAs derived from sequencing of poly-A RNA from multiple tissues. 47 This observation is consistent with a general role for GWAS findings in the regulation of gene expression rather than alteration of protein sequence. eQTLs 49,50 overlap with SNPs implicated by GWAS over all traits 51-53 as well as for specific traits like height, adiposity, cardiovascular risk factors, chemotherapy-induced cytotoxicity, autism, schizophrenia, and Crohn's disease. 54-61An estimated 55% of eQTL SNPs lie in DNase I hypersensitivity sites (a marker for open chromatin subject to transcriptional regulation) and 77% of SNPs implicated in GWAS are in or in high LD with SNPs inDNase I hypersensitivity sites. 25,62,63
