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. © 2011 by American Society for Reproductive Medicine.
CITATION STYLE
Kim, S., Pyun, J. A., Cha, D. H., Ko, J. J., & Kwack, K. (2011). Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure. Fertility and Sterility, 95(8), 2585–2588. https://doi.org/10.1016/j.fertnstert.2010.12.042
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