| Summary: | Recurrent implantation failure (RIF) refers to two or more unsuccessful in vitro fertilization embryo transfers in the same individual. Embryonic characteristics, immunological factors, and coagulation factors are known to be the causes of RIF. Genetic factors have also been reported to be involved in the occurrence of RIF, and some single nucleotide polymorphisms (SNPs) may contribute to RIF. We examined SNPs in <i>FSHR</i>, <i>INHA</i>, <i>ESR1</i>, and <i>BMP15</i>, which have been associated with primary ovarian failure. A cohort of 133 RIF patients and 317 healthy controls consisting of all Korean women was included. Genotyping was performed by Taq-Man genotyping assays to determine the frequency of the following polymorphisms: <i>FSHR</i> rs6165, <i>INHA</i> rs11893842 and rs35118453, <i>ESR1</i> rs9340799 and rs2234693, and <i>BMP15</i> rs17003221 and rs3810682. The differences in these SNPs were compared between the patient and control groups. Our results demonstrate a decreased prevalence of RIF in subjects with the <i>FSHR</i> rs6165 A>G polymorphism [AA vs. AG adjusted odds ratio (AOR) = 0.432; confidence interval (CI) = 0.206–0.908; <i>p</i> = 0.027, AA+AG vs. GG AOR = 0.434; CI = 0.213–0.885; <i>p</i> = 0.022]. Based on a genotype combination analysis, the GG/AA (<i>FSHR</i> rs6165/ESR1 rs9340799: OR = 0.250; CI = 0.072–0.874; <i>p</i> = 0.030) and GG-CC (<i>FSHR</i> rs6165/<i>BMP15</i> rs3810682: OR = 0.466; CI = 0.220–0.987; <i>p</i> = 0.046) alleles were also associated with a decreased RIF risk. Additionally, the <i>FSHR</i> rs6165GG and <i>BMP15</i> rs17003221TT+TC genotype combination was associated with a decreased RIF risk (OR = 0.430; CI = 0.210–0.877; <i>p</i> = 0.020) and increased FSH levels, as assessed by an analysis of variance. The <i>FSHR</i> rs6165 polymorphism and genotype combinations are significantly associated with RIF development in Korean women.
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