In Nature Genetics this week, a team led by scientists from the University of Southern California and the University of Chicago presents a genomic analysis of thousands of individuals from Sardinia, a Mediterranean island with a distinct culture and genetically isolated population. The researchers analyzed the whole genomes of 3,514 Sardinians and uncovered shared ancestry with Basque individuals, as well as subtly varied genetic similarity with mainland ancient DNA samples. "Together, our results indicate that within-island substructure and sex-biased processes have substantially impacted the genetic history of Sardinia," and further the understanding of sharing of disease risk alleles between Sardinia and mainland populations, the authors state. GenomeWeb has more on this, here.
Also in Nature Genetics, an international research team publishes the largest genetic association study of blood pressure traits to date, which includes over 1 million individuals of European ancestry. The investigators identify 535 novel blood pressure loci that inform blood pressure regulation and highlight shared genetic architecture between blood pressure and lifestyle exposures. "Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future," the researchers write. GenomeWeb also covers this, here.
Lastly in Nature Genetics, a group of US and European investigators reports the use of high-throughput chromosome conformation capture techniques to identify recurrent noncoding mutations in colorectal cancer (CRC). Among the findings is a recurrently mutated cis-regulatory element interacting with the ETV1 promoter affecting gene expression, and the scientists show that ETV1 upregulation is associated with poor patient prognosis. "Our work supports the existence of non-coding drivers for CRC, and more broadly provides a paradigm for using chromosome conformation capture to decode disease-specific regulatory elements," the researchers conclude. There's also more on this, here.