Gene polymorphisms in female reproduction

Methods Mol Biol. 2014:1154:75-90. doi: 10.1007/978-1-4939-0659-8_4.

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.

MeSH terms

  • Endometriosis
  • Female
  • Fertility / genetics*
  • Follicle Stimulating Hormone / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Luteinizing Hormone / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Molecular Biology / methods
  • Mutation
  • Polycystic Ovary Syndrome / genetics
  • Polycystic Ovary Syndrome / pathology
  • Polymorphism, Single Nucleotide / genetics
  • Primary Ovarian Insufficiency / genetics
  • Primary Ovarian Insufficiency / pathology
  • Receptors, Progesterone / genetics*

Substances

  • Receptors, Progesterone
  • Luteinizing Hormone
  • Follicle Stimulating Hormone
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)