Genetic alterations affecting cholesterol metabolism and human fertility.

ABSTRACT: 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,

SUBMITTER: DeAngelis AM 

PROVIDER: S-EPMC4434926 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature