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. 2019 Aug 7;10:1880. doi: 10.3389/fimmu.2019.01880

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Copyright © 2019 Carnero-Montoro, Barturen, Povedano, Kerick, Martinez-Bueno, PRECISESADS Clinical Consortium, Ballestar, Martin, Teruel and Alarcón-Riquelme.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Intermediary role of DNAm in the genetic risk of MCTD. (A) Summary of relationships between PHRF1-genotype (rs12362352), DNAm at IRF7 (cg17114584), and MCTD. The p-values shown were obtained in the corresponding meQTL, EWAS, or genetic association analyses. (B) G minor allele for PHRF1-genotype (rs12362352) is associated with a decreased in DNAm at IRF7 gene (cg17114584). (C) DNAm at DNAm at IRF7 gene (cg17114584) shows decreases DNAm levels in MCTD patients than controls (CTRL). (D) G minor allele for PHRF1-genotype (rs12362352) is associated with increased MCTD risk. (E) Summary of relationships between HLA-B-genotype (rs2507991), DNAm at HLA-B (cg23923934), and MCTD. (F) A minor allele for HLA-B-genotype (rs2507991) is associated with an increased in DNAm at HLA-B gene (cg23923934). (G) DNAm at HLA-B gene (cg23923934) shows decreases DNAm levels in MCTD patients than controls (CTRL). (H) A minor allele for HLA-B-genotype (rs2507991) is associated with decreased MCTD risk.