Melatonin Receptor 1B Polymorphisms and Reproductive Failure – a Pilot Study

Abstract

The present study aimed to investigate the possible associations between the melatonin receptor 1B (MTNR1b) genetic polymorphisms and the presence of reproductive disturbances due to spontaneous abortion and implantation failure leading to pregnancy loss. The patients group included 35 women presenting with one or more miscarriages and/or implantation failure. Another 36 healthy women without history of implantation failure or miscarriages and with at least one birth served as a control group. Genomic DNA was extracted and genotyping for the MTNR1b polymorphisms rs1562444, rs10830962 and rs10830963 was performed by PCR-RFLP analysis. The genotype distribution of the investigated MTNR1b polymorphisms in patients with reproductive failure did not differ significantly to the group of women with at least one birth (p > 0.05 for all). Nevertheless, the presence of a haplotype rs1562444 AA rs10830962 GG was significantly less common in women with miscarriages or implantation failure than in women with at least one birth (2.9% vs. 22.2%, p = 0.028). We suggest that the haplotype might be protective against implantation failure and spontaneous miscarriage. Additionally, rs1562444 AA genotype was not found in women with recurrent pregnancy loss. Studies in larger populations are necessary to reveal the proper associations between different MTNR1b haplotypes, ovarian function and reproductive failure.