In Nature Genetics this week, an international team of researchers reports on the discovery of a genetic variant associated with a decreased risk of contracting typhoid fever. By conducting a genome-wide association study of 432 individuals with blood culture-confirmed typhoid fever and roughly 2,000 controls, they identified a genetic variant at HLA-DRB1 that confers almost five-fold greater protection from the disease than the alternate variants of the same gene. GenomeWeb Daily News has more on this study here.
Also in Nature Genetics, a team of Swedish scientists describe a methodology for uncovering associations between somatic mutations in regulatory DNA and changes in gene expression levels in a pan-cancer setting. By mapping and analyzing somatic mutations in 505 tumor genomes across 14 cancer types, they found that mutations in TERT regulatory DNA exhibit an remarkably strong and genome-wide significant association with altered promoter activity. The strength of this association, however, was variable and strongest in copy-number stable cancers.