Genetic alterations affecting cholesterol metabolism and human fertility

Anthony M. DeAngelis, Meaghan Roy-O'Reilly, Annabelle Rodriguez

Research output: Contribution to journalShort surveypeer-review

14 Scopus citations


Single nucleotide polymorphisms (SNPs) represent genetic variations among individuals in a population. In medicine, these small variations in the DNA sequence may significantly impact an individual's response to certain drugs or influence the risk of developing certain diseases. In the field of reproductive medicine, a significant amount of research has been devoted to identifying polymorphisms which may impact steroidogenesis and fertility. This review discusses current understanding of the effects of genetic variations in cholesterol metabolic pathways on human fertility that bridge novel linkages between cholesterol metabolism and reproductive health. For example, the role of the low-density lipoprotein receptor (LDLR) in cellular metabolism and human reproduction has been well studied, whereas there is now an emerging body of research on the role of the high-density lipoprotein (HDL) receptor scavenger receptor class B type I (SR-BI) in human lipid metabolism and female reproduction. Identifying and understanding how polymorphisms in the SCARB1 gene or other genes related to lipid metabolism impact human physiology is essential and will play a major role in the development of personalized medicine for improved diagnosis and treatment of infertility.

Original languageEnglish (US)
Article number117
JournalBiology of reproduction
Issue number5
StatePublished - Nov 1 2014


  • Cholesterol metabolism
  • Genetics
  • Infertility
  • Lipoproteins
  • Mutation
  • Polymorphism
  • Reproduction

ASJC Scopus subject areas

  • Reproductive Medicine
  • Cell Biology


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