Centre for Genomics and Personalised Health researchers Professor Dale Nyholt and postdoctoral fellow Dr Ammarah Ghaffar used migraine genome-wide association study (GWAS) summary statistics and gene expression (eQTL) data to characterise established (genome-wide significant) GWAS loci and identify novel migraine risk loci. This study, just published online in Human Genetics, examined multiple transcriptome-wide association study (TWAS) imputation models and identified a total of 128 putative migraine risk genes at 58 independent loci, comprising 66 genes at 26 established GWAS loci and 62 genes at 32 novel loci. Of these 32 loci, 21 were found to be true risk loci in a recent, more powerful migraine GWAS. The results provide important guidance on the selection and use of imputation-based TWAS approaches to characterise established GWAS risk loci, and for the first time, prove the utility of TWAS to identify true novel risk gene loci.
Read more here: https://doi.org/10.1007/s00439-023-02568-8