Combined study on the single nucleotide polymorphisms in the follicle-stimulating hormone receptor (Ser680Asn) and anti-Mullerian hormone receptor type II (-482A>G) as genetic markers in assisted reproduction

Background: Infertile women may have underlying genetic abnormalities. There is, at present, a significant number of studies on the relation between the follicle stimulating hormone receptor (FSHR) or anti-Mullerian hormone type II receptor (AMHRII) polymorphisms and response to in-vitro fertilisation (IVF) treatment. However, it is not yet clear which genotype or combination of genotypes is favourable towards a better ovarian stimulation and pregnancy outcome. Materials and methods: In this study we assessed the distribution of the genotypes of FSHR Ser680Asn and of AMHRII -482A>G gene polymorphisms in a group of 126 infertile women and a control group of 100 fertile women by using real-time polymerase chain reaction (RT-PCR). Results: Statistical analysis showed that the frequency of the genotypes is similar in both control and IVF/ intracytoplasmic sperm injection (ICSI) groups. Further investigation of the frequency of the nine possible combinations of these polymorphisms in the groups revealed no correlation between infertility and combination of the polymorphisms. Women with one polymorphism have on average 5.5 units higher levels of AMH compared to women carrying no polymorphism. In women with no polymorphisms, for each unit of FSH increase, the average concentration of blood AMH is expected to be 72% lower. Conclusion: The distribution of the FSHR Ser680Asn and of the AMHRII -482A>G gene polymorphisms, in the Greek population is similar in fertile and infertile women. The study showed that FSH and AMH correlated levels in certain cases could be used to estimate a patient's ovarian reserve.