Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes

Hum Genome Var. 2021 Jul 5;8(1):25. doi: 10.1038/s41439-021-00156-8.


Recently, we conducted genome-wide association studies of type 2 diabetes (T2D) in a Japanese population, which identified 20 novel T2D loci that were not associated with T2D in Europeans. Moreover, nine novel missense risk variants, such as those of PAX4, were not rare in the Japanese population, but rare in Europeans. We report in silico structural analysis of ethnic-specific variants of PAX4, which suggests the pathogenic effect of these variants.