TY - JOUR AU - Morrison, Faer S. AU - Locke, Jonathan M. AU - Wood, Andrew R. AU - Tuke, Marcus AU - Pasko, Dorota AU - Murray, Anna AU - Frayling, Tim AU - Harries, Lorna W. PY - 2013 DA - 2013/09/17 TI - The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts JO - BMC Genomics SP - 627 VL - 14 IS - 1 AB - Many genetic variants have been associated with susceptibility to complex traits by genome wide association studies (GWAS), but for most, causal genes and mechanisms of action have yet to be elucidated. Using bioinformatics, we identified index and proxy variants associated with autoimmune disease susceptibility, with the potential to affect splicing of candidate genes. PCR and sequence analysis of whole blood RNA samples from population controls was then carried out for the 8 most promising variants to determine the effect of genetic variation on splicing of target genes. SN - 1471-2164 UR - https://doi.org/10.1186/1471-2164-14-627 DO - 10.1186/1471-2164-14-627 ID - Morrison2013 ER -