Gene Polymorphisms in Female Reproduction

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This chapter reviews genetic studies associating ovarian receptor gene polymorphisms and mutations with female infertility, premature ovarian failure, polycystic ovary syndrome, and endometriosis.

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This chapter reviews gene polymorphisms affecting ovarian receptor function, focusing on genetic studies that link receptor polymorphisms and gene mutations to female reproductive outcomes such as infertility, premature ovarian failure, and polycystic ovary syndrome. It synthesizes evidence in a broad overview of clinical implications of variants in receptors and related pathways, with endometriosis included among the pathological conditions surveyed. The chapter’s limitation is that it is a narrative review rather than presenting new experimental data or specifying uniform methods across the included studies. Relevance to endometriosis: the chapter explicitly lists endometriosis among the pathological conditions with reported associations to receptor polymorphisms, though the chapter’s main focus is a general overview of gene polymorphisms underlying ovarian receptor functions in female fecundity.

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Abstract

This chapter presents an overview of the gene polymorphisms underlying the functions of ovarian receptors and their clinical implications in the female fecundity. A selection of genetic studies revealing significant associations between receptor polymorphisms, gene mutations, and some pathological conditions (i.e., female infertility, premature ovarian failure, polycystic ovary syndrome, endometriosis) are reviewed. Access this chapter Tax calculation will be finalised at checkout Purchases are for personal use only Similar content being viewed by others

References

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Methods in Molecular Biology, vol 1154. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-0659-8_4 Download citation DOI: https://doi.org/10.1007/978-1-4939-0659-8_4 Published: Publisher Name: Humana Press, New York, NY Print ISBN: 978-1-4939-0658-1 Online ISBN: 978-1-4939-0659-8 eBook Packages: Springer Protocols

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Fertility Follicle Stimulating Hormone Luteinizing Hormone Methylenetetrahydrofolate Reductase (NADPH2) Receptors, Progesterone Endometriosis Female Fertility Follicle Stimulating Hormone Genetic Predisposition to Disease Humans Luteinizing Hormone Methylenetetrahydrofolate Reductase (NADPH2) Molecular Biology Molecular Biology Mutation Polycystic Ovary Syndrome Polycystic Ovary Syndrome Polycystic Ovary Syndrome Polymorphism, Single Nucleotide

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