Evidence map›Paper›PMID 38982179›Full record

ArticleJournal of human genetics2024

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 and 3 more

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Article in Journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Jim Jinn-Chyuan Sheu *Institute of Biomedical Sciences, National Sun Yatsen University, Kaohsiung, 804201, Taiwan.
Wei-Yong Lin *Graduate Institute of Integrated Medicine, China Medical University, Taichung, 404333, Taiwan.
Ting-Yuan Liu *Department of Medical Research, China Medical University Hospital, Taichung, 404327, Taiwan.
Cherry Yin-Yi ChangDepartment of Obstetrics and Gynecology, China Medical University Hospital, Taichung, 404327, Taiwan.
Jack ChengDepartment of Medical Research, China Medical University Hospital, Taichung, 404327, Taiwan.
Yau-Hong LiInstitute of Biomedical Sciences, National Sun Yatsen University, Kaohsiung, 804201, Taiwan.
Chih-Mei ChenGenetics Center, China Medical University Hospital, Taichung, 404327, Taiwan.
Chung-Chen TsengInstitute of Biomedical Sciences, National Sun Yatsen University, Kaohsiung, 804201, Taiwan.
Wendy Yarou DingGenetics Center, China Medical University Hospital, Taichung, 404327, Taiwan.
Ching ChungGenetics Center, China Medical University Hospital, Taichung, 404327, Taiwan.
Tritium HwangInstitute of Biomedical Sciences, National Sun Yatsen University, Kaohsiung, 804201, Taiwan.
Ping-Ho ChenInstitute of Biomedical Sciences, National Sun Yatsen University, Kaohsiung, 804201, Taiwan.
Fuu-Jen TsaiSchool of Chinese Medicine, China Medical University, Taichung, 404333, Taiwan. d0704@mail.cmuh.org.tw.ORCID http://orcid.org/0000-0002-1373-245X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

EndometriosisGenetic Predisposition to DiseasePolymorphism, Single NucleotideAdultCase-Control StudiesEast Asian PeopleEthnicityFemaleGenetic LociGenome-Wide Association StudyHumansRNA, Long NoncodingTaiwanRNA, Long Noncoding

Identifiers

PMID38982179

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.