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. 2023 Jan 12;14:175. doi: 10.1038/s41467-023-35808-6

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© The Author(s) 2023

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. 2 — a Example of sex-differentiated/specific cis-DMET eQTLs in both sexes for UGT2B17 (left panels) and PON1 (right panels) in liver. b Manhattan plot of sex-stratified cis-eQTLs in DMET regions in human liver. Sex-differentiated/specific cis-eQTLs and their corresponding genes are labeled (blue: Male, red: Female) and parentheses indicates the number of cis-eQTLs. Highlighted genes are statistically significant after multiple testing correction (FDR < 0.1). c Colocalization of GWAS traits with sex-differentiated/specific cis-eQTLs for DMET genes. PPH4 values are represented by the size of circles. Only colocalizations with PPH4 > 0.5 in one sex are shown (females: red; males: blue). d LocusZoom plots for alcohol intake frequency at the ADH1C locus. The top panels illustrate the results from the sex-combined GWAS, while female-only and male-only cis-eQTLs are shown in the middle and the bottom panels. rs34076947 is a male-specific ADH1C cis-eQTL in liver. In (a) and (d), linkage disequilibrium between loci is quantified by the squared Pearson coefficient of correlation (r²). In (a, b, d), association testing was performed using a linear regression model by FastQTL.