Ethnic-specific Genetic Susceptibility Loci for Endometriosis in Taiwanese-Han Population: a Genome-Wide Association Study

Jim Jinn-Chyuan Sheu,Wei-Yong Lin,Ting-Yuan Liu,Cherry Yin-Yi Chang,Jack Cheng, Yau-Hong Li,Chih-Mei Chen,Chung-Chen Tseng, Wendy Yarou Ding,Ching Chung,Tritium Hwang,Ping-Ho Chen,Fuu-Jen Tsai

Journal of Human Genetics（2024）

Natl Sun Yat Sen Univ | China Med Univ | China Med Univ Hosp

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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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【要点】：研究在台灣漢人人群中发现了与子宫内膜异位症相关的特定人種基因易感位点，并揭示了这些基因在癌症易感性和神经发育障碍中的作用。

【方法】：通过进行包含2794例病例和27,940例对照的全基因组关联研究（GWAS）。

【实验】：实验使用台湾汉人人群的数据集，发现了五个显著易感位点，其中两个为新发现位点（C5orf66/C5orf66-AS2和STN1），并通过功能网络分析揭示了这些基因在疾病发展中的具体作用。