Combined study on the single nucleotide polymorphisms in the follicle-stimulating hormone receptor (Ser68oAsn) and anti-Mullerian hormone receptor type II (—482AC) as genetic markers in assisted reproduction

摘要

In recent years, the incidence of infertility has increased according to recent publications from 9 to 18% in the general population [1]. Approximately 5-10% of infertile women may have underlying genetic abnormalities such as chromosome aberrations, single or multiple gene mutations and polymorphisms [2]. Infertile couples benefit from assisted reproduction technology, like IVF. Nevertheless, standard stimulation protocols in IVF are associated with variable responses to exogenous gonadotropin treatment and despite several years of clinical experience, precise prediction of ovarian response to controlled ovarian stimulation remains difficult. Both the variability in patient characteristics and in the response to IVF treatment highlight the need for personalised management in order to decrease the rates of cancelled IVF cycles and to improve efficacy and safety outcomes [3], [4]. Evidence suggest that differences observed between individuals or subpopulations of patients are often due to genetic variations, known as single nucleotide polymorphisms (SNPs) in coding regions responsible for the synthesis of hormone receptors, metabolic enzymes or transport molecules, which are specific targets for pharmaceutical drugs [5], [6], [7], [8].