Cytosine-guanine-guanine repeats of FMR1 gene negatively affect ovarian reserve and response in Chinese women

Xinyang Jin; Wenshan Zeng; Yanfei Xu; Pengzhen Jin; Minyue Dong

doi:10.1016/j.rbmo.2023.103779

Cytosine-guanine-guanine repeats of FMR1 gene negatively affect ovarian reserve and response in Chinese women

Reprod Biomed Online. 2023 Dec 24;49(1):103779. doi: 10.1016/j.rbmo.2023.103779. Online ahead of print.

Authors

Xinyang Jin¹, Wenshan Zeng¹, Yanfei Xu¹, Pengzhen Jin², Minyue Dong³

Affiliations

¹ Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
² Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China; Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou, China.
³ Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China; Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou, China. Electronic address: dongmy@zju.edu.cn.

PMID: 38678742
DOI: 10.1016/j.rbmo.2023.103779

Abstract

Research question: Do cytosine-guanine-guanine (CGG) repeats of the FMR1 gene affect ovarian function, ovarian response and assisted reproductive technology (ART) outcomes in Chinese women?

Design: A retrospective cohort study of 5869 women who underwent 8932 ART cycles at Women's Hospital, School of Medicine, Zhejiang University between January 2018 and June 2021. Basic hormone level, oocyte yield, embryo quality and the rate of live birth were considered as main outcome measures to evaluate the effects of CGG repeats on ovarian function, ovarian response and ART outcomes.

Results: The CGG repeats were negatively related to serum anti-Müllerian hormone (AMH), oestradiol, antral follicle count (AFC) and oocyte yield. A significant association was found between serum AMH, oestradiol and AFC even after age was controlled for. No statistically significant association, however, was found between CGG repeats and embryo quality or live birth rate. Ovarian function mediated the association between CGG repeats and ovarian response.

Conclusion: Increased CGG repeats on the FMR1 gene were associated with diminished ovarian function and poor ovarian response, and ovarian function played an intermediary role in the relationship between CGG repeats and ovarian response.

Keywords: CGG repeats; FMR1 gene; assisted reproductive technology; ovarian function; ovarian response.