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. 2023 Feb 1;14:542. doi: 10.1038/s41467-023-35974-7

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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. 1 — The flow diagram illustrates the data usage and analytical steps of our study. We conducted a GWAS of uterine leiomyomata (UL) in 18,060 cases and 150,519 female controls from the FinnGen project. Subsequently, we meta-analysed the FinnGen-based results with summary statistics from a previous UL meta-GWAS¹². META-1 included 53,534 cases and 373,024 female controls and was restricted to the top 10,000 variants from the previous study¹². META-2 was conducted genome-widely in 38,466 cases and 329,437 female controls, excluding 23andMe data due to the data usage policy. Downstream analyses assessing functional annotations, gene-based associations, pathway enrichment, conditional association tests, fine-mapping, and genetic correlations were conducted using genome-wide summary statistics from META-2. In addition, fine-mapping was also conducted for the results of META-1. In Mendelian randomisation analyses evaluating causal inferences between UL and other, mostly UKBB-based traits, we extracted instruments for UL from the FinnGen-based summary statistics to avoid possible bias from overlapping UKBB samples.