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Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study

Journal of Human Genetics (2024)Cite this article

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Abstract

Endometriosis is a common gynecological disorder affecting around 10% of reproductive-age women. Although many hypotheses were proposed, genetic alteration has been considered as one of the key factors promoting pathogenesis. Due to racial/ethnic disparities in the process of hormone regulation and nutrition metabolism, a genome-wide association study (GWAS) with 2794 cases and 27,940 controls was conducted in a Taiwanese-Han population. Our study identified five significant susceptibility loci for endometriosis, and three of them, WNT4 (on the 1p36.12), RMND1 (6q25.1), and CCDC170 (6q25.1), have been previously associated with endometriosis across different populations, including European and Japanese descent cohorts. Other two including C5orf66/C5orf66-AS2 (5q31.1) and STN1 (10q24.33) are newly identified ones. Functional network analysis of potent risk genes revealed the involvement of cancer susceptibility and neurodevelopmental disorders in endometriosis development. In addition, long non-coding RNAs (lncRNAs) C5orf66 and C5orf66-AS2 can interact with many RNA-binding proteins (RBPs) which can influence RNA metabolic process, mRNA stabilization, and mRNA splicing, leading to dysregulation in tumor-promoting gene expression. Those findings support clinical observations of differences in the presentation of endometriosis in Taiwanese-Han population with higher risks of developing deeply infiltrating/invasive lesions and the associated malignancies.

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Acknowledgements

The authors thank critical comments and valuable suggestions from Prof. Yin-Ju Lin and Prof. Da-Tian Bau at China Medical University/Taiwan. This study was supported by grants from the National Science and Technology Council (NSTC)/Taiwan (110-2320-B-039-033- and 111-2320-B-039-030-MY3), the NSYSU-KMU Joint Research Project (111-P025), China Medical University/Taiwan (CMU111-MF-65) and China Medical University Hospital/Taiwan (DMR111-239).

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Author notes

  1. These authors contributed equally: Jim Jinn-Chyuan Sheu, Wei-Yong Lin, Ting-Yuan Liu.

Authors and Affiliations

  1. Institute of Biomedical Sciences, National Sun Yatsen University, Kaohsiung, 804201, Taiwan

    Jim Jinn-Chyuan Sheu, Yau-Hong Li, Chung-Chen Tseng, Tritium Hwang & Ping-Ho Chen

  2. Institute of Biopharmaceutical Sciences, National Sun Yatsen University, Kaohsiung, 804201, Taiwan

    Jim Jinn-Chyuan Sheu

  3. Institute of Precision Medicine, National Sun Yatsen University, Kaohsiung, 804201, Taiwan

    Jim Jinn-Chyuan Sheu

  4. School of Chinese Medicine, China Medical University, Taichung, 404333, Taiwan

    Jim Jinn-Chyuan Sheu & Fuu-Jen Tsai

  5. Department of Biotechnology, Kaohsiung Medical University, Kaohsiung, 807378, Taiwan

    Jim Jinn-Chyuan Sheu

  6. Graduate Institute of Integrated Medicine, China Medical University, Taichung, 404333, Taiwan

    Wei-Yong Lin

  7. Department of Medical Research, China Medical University Hospital, Taichung, 404327, Taiwan

    Wei-Yong Lin, Ting-Yuan Liu & Jack Cheng

  8. Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, 404327, Taiwan

    Cherry Yin-Yi Chang

  9. Department of Medicine, School of Medicine, China Medical University, Taichung, 404333, Taiwan

    Cherry Yin-Yi Chang

  10. Department of Obstetrics and Gynecology, Pingtung Veterans General Hospital, Pingtung, 900053, Taiwan

    Yau-Hong Li

  11. Genetics Center, China Medical University Hospital, Taichung, 404327, Taiwan

    Chih-Mei Chen, Wendy Yarou Ding, Ching Chung & Fuu-Jen Tsai

  12. School of Dentistry, Kaohsiung Medical University, Kaohsiung, 807378, Taiwan

    Ping-Ho Chen

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Contributions

JJCS, WYL, TYL, and FJT designed the experiments and validated the data. TYL, JC, CMC, and PHC performed GWAS analysis and confirmed the data. CMC, CCT, WYD, CC, and TH collected clinical samples and extracted the DNA. TYL, CYYC, YHL, and FJT conducted clinical study and collected clinical information. JJCS, WYL, CYYC, JC, and FJT analyzed the data and made the figures/tables. JJCS, WYL, CYYC, and FJT confirmed the data and wrote the manuscript.

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Correspondence to Fuu-Jen Tsai.

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Sheu, J.JC., Lin, WY., Liu, TY. et al. Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study. J Hum Genet (2024). https://doi.org/10.1038/s10038-024-01270-5

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