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. 2018 Jan 22;9:321. doi: 10.1038/s41467-017-02380-9

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Discovery and replication strategy. Publicly available GWAS datasets representing a total of 12,931 cases and 57,196 controls (70KforT2D) were first quality controlled, phased, and imputed, using 1000G and UK10K separately. For those variants that were present in the DIAGRAM trans-ethnic meta-analysis, we used the summary statistics to meta-analyze our results with the cohorts that had no overlap with any of the cohorts included in the DIAGRAM trans-ethnic meta-analysis. With this first meta-analysis, we discovered four novel loci (within magenta panels). For the rest of the variants, we meta-analyzed all the 70KforT2D data sets, which resulted in two novel loci (in blue panels). All the variants that were coding and showed a p-value of ≤ 1 × 10⁻⁴ were tested for replication by interrogating the summary statistics in the Type 2 Diabetes Knowledge Portal (T2D Portal) (http://www.type2diabetesgenetics.org/). This uncovered a novel low-frequency variant in the EHMT2 gene (highlighted with a green panel)