Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes

Nat Commun. 2016 Jan 28;7:10531. doi: 10.1038/ncomms10531.


Genome-wide association studies (GWAS) have identified more than 80 susceptibility loci for type 2 diabetes (T2D), but most of its heritability still remains to be elucidated. In this study, we conducted a meta-analysis of GWAS for T2D in the Japanese population. Combined data from discovery and subsequent validation analyses (23,399 T2D cases and 31,722 controls) identify 7 new loci with genome-wide significance (P<5 × 10(-8)), rs1116357 near CCDC85A, rs147538848 in FAM60A, rs1575972 near DMRTA1, rs9309245 near ASB3, rs67156297 near ATP8B2, rs7107784 near MIR4686 and rs67839313 near INAFM2. Of these, the association of 4 loci with T2D is replicated in multi-ethnic populations other than Japanese (up to 65,936 T2Ds and 158,030 controls, P<0.007). These results indicate that expansion of single ethnic GWAS is still useful to identify novel susceptibility loci to complex traits not only for ethnicity-specific loci but also for common loci across different ethnicities.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Asians / genetics
  • Case-Control Studies
  • DNA-Binding Proteins / genetics
  • Diabetes Mellitus, Type 2 / genetics*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Japan
  • Polymorphism, Single Nucleotide
  • Suppressor of Cytokine Signaling Proteins / genetics
  • Transcription Factors / genetics


  • ASB3 protein, human
  • DMRTA1 protein, human
  • DNA-Binding Proteins
  • SINHCAF protein, human
  • Suppressor of Cytokine Signaling Proteins
  • Transcription Factors