Unknown

Dataset Information

0

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, 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.

SUBMITTER: DeAngelis AM 

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

REPOSITORIES: biostudies-literature

altmetric image

Publications

Genetic alterations affecting cholesterol metabolism and human fertility.

DeAngelis Anthony M AM   Roy-O'Reilly Meaghan M   Rodriguez Annabelle A  

Biology of reproduction 20140813 5


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 eff  ...[more]

Similar Datasets

| S-EPMC156261 | biostudies-literature
| S-EPMC6851023 | biostudies-literature
| S-EPMC2633353 | biostudies-literature
| S-EPMC4380064 | biostudies-literature
| S-EPMC4010827 | biostudies-other
| S-EPMC7435688 | biostudies-literature
| S-EPMC4941243 | biostudies-literature
2008-04-01 | GSE6054 | GEO
| S-EPMC7184639 | biostudies-literature
| S-EPMC4710836 | biostudies-literature