Type 2 diabetes (T2D) genetic architecture has been recently explored and analysed by the GoT2D and T2D-GENES consortia. As described in their article, published in Nature on July, 11th, 2,657 European individuals with and without diabetes were sequenced using whole-genome sequencing, and 12,940 individuals from five ancestry groups were sequenced using exome sequencing. The sample size was further expanded to 111,548 subjects.

Both large-scale sequencing and simulations performed by the consortia suggest that lower-frequency variants contribute much less to T2D heritability than do common variants.


GoT2D data – Low pass whole genome sequencing and high density SNP genotyping in 2,657 individuals has been archived at the EGA under study EGAS00001001459.

T2D-GENES data – Exome sequencing in 6,546 T2D cases and 6,457 control individuals of multiethnic origin has been archived at the EGA under study EGAS00001001460.

Considering applying for the data? Application for the data can be done via the Type 2 Diabetes GoT2D/T2D-GENES DAC.


Further information about the T2D Knowledge Portal can be found here.