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Updated: Jun 4, 2026

Exploring Independent Effects of Follicle-Stimulating Hormone In Vivo in a Mouse Model
Published on: August 11, 2023
Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure
Sunshin Kim1, Jung-A Pyun, Dong Hyun Cha
1Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
Abstract:
Follicle-stimulating hormone secreted from the pituitary gland plays a key role in human reproduction and regulates estrogen production by acting on the regulatory region of CYP19A1. We observed a significant association between premature ovarian failure and the combined genetic effect of single nucleotide polymorphism (SNP) rs4646 (CA+AA) in the 3' untranslated region of CYP19A1 and the missense FSHR SNP rs6166 (AG+GG) genotype (odds ratio 5.42, 95% confidence interval 1.96-14.98), and we identified a significant association between premature ovarian failure and the combined genetic effect of the FSHR missense SNP rs6166 (AA) and the rs4646-rs10046 haplotype (C-T)+(C-C) (odds ratio 5.47, 95% confidence interval 2.03-14.75), suggesting that two biochemical pathways may be involved in the regulation of folliculogenesis.
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