The largest analysis of type 2 diabetes genetics finds 135 novel variants
Comination and analysis of 898 130 genomes identified 243 variants associated with type 2 diabetes risk, including 135 newly implicated.
Out of near 900 thousand European genomes collected over many studies, over 70 thousand people had type 2 diabetes (insulin resistance). Large dataset allowed to double the number of variants predicting the risk of the disease.
Especially high-risk mutations were found in/near genes DENND2C and KIF2B.
An overall risk score based on all variants accounts for average 18% of type 2 diabetes development risk. However, individuals on the ends of the genetic spectrum vary even nine-fold: people with the highest score have 9 times higher risk of the disease than people with the lowest score.
In addition to showing new variants and building risk score, data about known variants was also expanded. The analysis detailed information about low-frequency genetic variants and also brought a new wealth of data involving most essential genes in type 2 diabetes. Authors also point to 18 genes that might be therapeutic targets.
More: “Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps”, A. Mahajan et al., 2018, doi:10.1038/s41588-018-0241-6.