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Original Research

Open Access

A rare variant in the MARVELD2 gene is associated with Chinesen samples with ovarian endometriosis

  • Qiu-Yan Wan1,2,3
  • Rong-Fang Liu1,3
  • Yang Zou3
  • Yong Luo3
  • Jiang-Yan Zhou3
  • Ying-Hui Deng4
  • Xin Zeng3
  • Guo-Dong Gao3
  • Ou-Ping Huang1,3,5,*,

1The College of Medicine, Nanchang University, 330006 Nanchang, Jiangxi, China

2Department of Gynecological Oncology, Jiangxi Cancer Hospital, 330029 Nanchang, Jiangxi, China

3Key Laboratory of Women’s Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal & Child Healthcare Hospital, 330006 Nanchang, Jiangxi, China

4Department of Pathology, Jiangxi Provincial Maternal & Child Healthcare Hospital, 330006 Nanchang, Jiangxi, China

5Department of Gynecology, Jiangxi Provincial Maternal & Child Healthcare Hospital, 330006 Nanchang, Jiangxi, China

DOI: 10.31083/j.ejgo4301012 Vol.43,Issue 1,February 2022 pp.42-47

Submitted: 10 September 2021 Accepted: 18 November 2021

Published: 15 February 2022

*Corresponding Author(s): Ou-Ping Huang E-mail:


Objectives: Endometriosis is a common gynecological disease affecting up to ~10% of women at reproductive age. Prior combined studies implied that MARVELD2 might be involved in the pathogenesis of certain malignancies. Here, 211 Han Chinese samples with ovarian endometriosis were analyzed for the presence of MARVELD2 mutations. Methods: We analyze the potential presence of MARVELD2 mutations by direct DNA sequencing. Results: A total of 7 variants, 5 missense and 2 synonymous variants, were identified in our 211 ovarian endometriosis samples with different frequencies. Among the 5 missense variant, a missense rare variant p.V198M (c.592G>>A), was identified in 10 out of our 211 samples (4.74%). This rare variant was identified with extremely low frequency in 766 control samples from 766 Chinese women without endometriosis (0.13%, 1/766) and control samples in the public databases. The evolutionary conservation analysis results suggested that the MARVELD2 rare variant lead to highly conserved amino acid substitutions among 14 vertebrate species from Human to Snake. Furthermore, both the SIFT and Polyphen-2 programs predicted this rare variant to be ‘disease causing’. However, we failed to observe any statistical significance between the MARVELD2 rare variant and the available clinical data. Conclusions: We identified a potential pathogenic rare variant in the MARVELD2 gene in Chinese samples with ovarian endometriosis, indicating the MARVELD2 rare variant might play an active role in the pathogenesis of endometriosis.


MARVELD2; Rare variant; Ovarian endometriosis; Han Chinese

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Qiu-Yan Wan,Rong-Fang Liu,Yang Zou,Yong Luo,Jiang-Yan Zhou,Ying-Hui Deng,Xin Zeng,Guo-Dong Gao,Ou-Ping Huang. A rare variant in the MARVELD2 gene is associated with Chinesen samples with ovarian endometriosis. European Journal of Gynaecological Oncology. 2022. 43(1);42-47.


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