Impact of XXXX variants in fertility.

@entity1 @entity249 @entity3610 @entity11157 @entity535 @entity23385 @entity5 @entity170 @entity377 @entity23384
PURPOSE OF REVIEW: Genetic variation plays a crucial role in modification of normal or disease pathophysiology. @entity23385 ( @entity23385 ) signaling is necessary for normal development and function of the ovaries and testes. Here, we review the associations between @entity23385 polymorphisms and fertility or subfertility. RECENT FINDINGS: @entity23385 polymorphisms consist of single @entity377 changes within the coding and regulatory regions and/or alternatively spliced products. Most of the investigations focused on two single nucleotide polymorphisms (SNPs) in the coding region of the receptor, which result in @entity535 changes (p.307Thr/Ala, @entity23384 ). In @entity1 , these SNPs were associated with variable response to ovarian stimulation with FSH during @entity249 treatment. Not all studies revealed an association, and those that did showed a small effect. Alternative splice variants of the receptor affecting the extracellular domain without causing a frameshift have been found in @entity1 undergoing ovarian stimulation, and in infertile @entity1 . Associations with @entity3610 , @entity11157 , @entity170 , and @entity5 found small effect. SUMMARY: The identification of @entity23385 variants in a select @entity249 @entity1 population has significant clinical implications in demonstrating a possible genetic cause to female @entity249 and improves our understanding of the genetic basis of @entity249 as a whole. Pharmacogenomics is a new field aiming to devise individualized treatments for disorders based on the genetic signature of the @entity1 .
