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13 August 2014 Genetic Alterations Affecting Cholesterol Metabolism and Human Fertility
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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, 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.

Anthony M. DeAngelis, Meaghan Roy-O'Reilly, and Annabelle Rodriguez "Genetic Alterations Affecting Cholesterol Metabolism and Human Fertility," Biology of Reproduction 91(5), (13 August 2014). https://doi.org/10.1095/biolreprod.114.119883
Received: 1 April 2014; Accepted: 1 August 2014; Published: 13 August 2014
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