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CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and

Jianying Guo^1,2,3,4, Yali Fan⁵, Zifan Song^1,2,3,4

¹State Key Laboratory of Female Fertility Promotion, Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China.

|June 18, 2025

Abstract

Background:

Premature ovarian insufficiency (POI) is affecting approximately 1% of females and increasingly contributing to female infertility. The etiology of POI is heterogeneous. CHEK1, a critical component of the DNA damage and replication stress response, has recently been linked to female reproductive biology.

Results:

We identified a CHEK1 variant c.77C > G; p.A26G in a POI patient through whole-exome sequencing. Protein structure prediction and pathogenicity analysis suggested that the CHEK1 A26G variant may affect protein stability. RNA sequencing results of 293FT cells overexpressing wild-type and A26G CHEK1 revealed altered expression and alternative splicing of genes involved in metabolism and inflammation.

Conclusion:

CHEK1 may be involved in ovarian aging and the A26G variant may increase susceptibility to POI.

Keywords:

Assisted reproduction CHEK1 Metabolism Premature ovarian insufficiency Variant

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