Association of PTPRC Exon 4 and 6 Gene Polymorphisms in Idiopathic Recurrent Pregnancy Loss: A Couple -Based Study from South India.

Purpose: Recurrent pregnancy loss (RPL) implies to two or more consecutive pregnancy losses before 20 weeks of gestation with the same partner. Numerous studies have investigated the role of biochemical parameters with respect to PTPRC (Protein Tyrosine Phosphatase Receptor C) in embryonic development and pregnancy success. However, the PTPRC genetic polymorphisms in RPL have not been reported in the literature. Methods: Our study included one hundred and twenty-five couples with a history of RPL and 125 healthy couples who had one or more successful pregnancies without history of miscarriages as controls. Peripheral blood was used to isolate the DNA, which was followed by genotyping of PTPRC gene, C77G and A138G polymorphisms, by Allele specific PCR method. Results: The results showed significant association of PTPRC, rs17612648 and rs4915154 in both the partners of RPL cases when compared to controls. It is observed that the CG genotype of rs17612648 was predominant in couples with RPL. With regard to PTPRC rs4915154 polymorphism, only AG genotype was significant in RPL females when compared to control females. However, males with history of RPL showed a greater risk for both AG and GG genotypes. Haplotype analysis revealed the presence of minor allele in both the exons 4 and 6 increases the risk for RPL. Conclusion: In summary, our pilot study in south Indian population revealed significant association of PTPRC gene polymorphisms C77G and A138G in couples with RPL. Further studies in other populations on functional and disease associations are warranted.