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. 2019 May 9;9:7175. doi: 10.1038/s41598-019-43133-6

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© The Author(s) 2019

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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(A) MDS using autosomal SNPs of population samples from Ecuador, Spain, Peru, Nigeria and China. Population codes are as follows: ECU = Ecuadorian c.1187G > A carrier patients (present study), ESP = Spanish ARCI cases without the TGM1 c.1187G > A mutation (present study), GAL = Galician (Spanish) case with the TGM1 c.1187G > A mutation (present study), IBS = Iberian population in Spain, PEL = Peruvians from Lima (Peru), YRI = Yoruba in Ibadan (Nigeria) (all from 1000G²¹). (B) Barplot indicating ancestral memberships for the reference populations in 1000G and the SNP profiles of Ecuadorian carriers and Spanish ARCI patients.