The SIGMA Type 2 Diabetes Consortium sifted through the genotypes of 3,848 Mexicans and Latin Americans with type 2 diabetes and 4,366 controls to find a novel variant in the SLC16A11 gene that is linked with type 2 diabetes disease risk. SLC16A11, the researchers note in Nature, is expressed in hepatic cells and seems to be involved in lipid metabolism. This risk variant, though, is more common in Latinos than in people of Europe or African descent, , the consortium also reports. "Despite type 2 diabetes having been well studied by genome-wide association studies in other populations, analysis in Mexican and Latin American individuals identified SLC16A11 as a novel candidate gene for type 2 diabetes with a possible role in triacylglycerol metabolism," the researchers write. The risk variant, the consortium also reports, appears to have introgressed into modern humans due to admixture with Neandertals.
GenomeWeb Daily News has more on this study here.
Over in Nature Genetics, an international team of researchers reports on their integrative study of follicular lymphoma that brought together data from whole-genome or whole-exome sequencing of 10 follicular lymphoma-transformed follicular lymphoma pairs and deep sequencing of 28 genes in an additional cohort. From this, the team found that follicular lymphomas display certain recurrent mutations — particularly in histone-modifying genes — and follow common patterns as they are transformed. " We did not identify a single compelling genetic event responsible for transformation but instead demonstrate that the acquisition of distinct genetic alterations may prompt the onset of aggressive disease," the team writes.
GenomeWeb Daily News also covers this study here.
An international team of researchers surveyed the mutational landscape of cervical carcinomas, as they report in Nature this week. They performed whole-exome sequencing of 115 tumor-normal pairs, whole-genome sequencing of 14 tumor-normal pairs, and transcriptome sequencing of 79 carcinomas. From this, the investigators uncovered a number of previously unidentified somatic mutations linked to the disease, such as ones in MAPK1, HLA-B , and EP300. Additionally, they found that tumors with HPV integration had higher gene expression levels at HPV integrations sites than tumors with out viral integration at those spots. "[O]ur data suggests that the association between HPV integration and increased expression of adjacent genes is a widespread phenomenon in primary cervical carcinomas," the team adds.