P-241: Association of ITPA Polymorphisms rs1127354 with Infertility

Background: Infertility is a relatively common problem that affects couples worldwide. It is estimated that approximately 1 in 6 couples will experience difficulties in reproducing, defined as a failure to conceive after two years of unprotected sexual intercourse. The molecular and genetic factors underlying the cause of infertility remain largely undiscovered. ITPA is an inosine triphosphatase (ITPase), which is reported to hydrolyze (d) ITP and XTP to the corresponding nucleoside monophosphates. It is documented that ITPA deficiency could lead to miscarriage in mice, so it seems that ITPA deficiency may be a candidate of infertility in human. Materials and Methods: The human genomic DNA of all patients was extracted from white blood cells using salting out method. In order to determine the single nucleotide polymorphism (SNP) of ITPA (rs1127354), genotyping was performed by RFLP-PCR. Results: This study showed that the two SNPs of rs1127354 are in hardy-Weinberg equilibrium. This study explored the association between inosine triphosphatase (ITPA) Functional variants; SNPs rs1127354 (missense variant in exon 2) and the development of infertility, and explored the relationship between ITPA variants and therapeutic response. Conclusion: It seems that rs1127354/rs7270101 variants could be a genetic determinant for decreased fertility.