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Aim  We performed a replication study in a Japanese population to evaluate the association between type 2 diabetes and 7 susceptibility loci originally identified by European genome-wide association study (GWAS) in 2012:  ZMIZ1 ,  KLHDC5 ,  TLE1 ,  ANKRD55 ,  CILP2 ,  MC4R , and  BCAR1 . We also examined the association of 3 additional loci:  CCND2  and  GIPR , identified in sex-differentiated analyses, and  LAMA1 , which was shown to be associated with non-obese European type 2 diabetes.    Methods  We genotyped 6,972 Japanese participants (4,280 type 2 diabetes patients and 2,692 controls) for each of the 10 single nucleotide polymorphisms (SNPs): rs12571751 in  ZMIZ1 , rs10842994 near  KLHDC5 , rs2796441 near  TLE1 , rs459193 near  ANKRD55 , rs10401969 in  CILP2 , rs12970134 near  MC4R , rs7202877 near  BCAR1 , rs11063069 near  CCND2 , rs8108269 near  GIPR , and rs8090011 in  LAMA1  using a multiplex polymerase chain reaction invader assay. The association of each SNP locus with the disease was evaluated using a logistic regression analysis.    Results  All SNPs examined in this study had the same direction of effect (odds ratio > 1.0, p = 9.77 × 10 -4 , binomial test), as in the original reports. Among them, rs12571751 in  ZMIZ1  was significantly associated with type 2 diabetes [p = 0.0041, odds ratio = 1.123, 95% confidence interval 1.037–1.215, adjusted for sex, age and body mass index (BMI)], but we did not observe significant association of the remaining 9 SNP loci with type 2 diabetes in the present Japanese population (p ≥ 0.005). A genetic risk score, constructed from the sum of risk alleles for the 7 SNP loci identified by un-stratified analyses in the European GWAS meta-analysis were associated with type 2 diabetes in the present Japanese population (p = 2.3 × 10 -4 , adjusted for sex, age and BMI).    Conclusions    ZMIZ1  locus has a significant effect on conferring susceptibility to type 2 diabetes also in the Japanese population.

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Replication Study in a Japanese Population to Evaluate the Association between 10 SNP Loci, Identified in European Genome-Wide Association Studies, and Type 2 Diabetes