Common polymorphisms in the P-selectin gene in women with recurrent spontaneous abortions

Abstract Background To investigate possible associations of P-selectin polymorphisms with idiopathic recurrent pregnancy loss (RPL). Methods Study subjects comprised 270 consecutive RPL cases attending outpatient maternity services, and 322 multi-parous control women. P-selectin genotyping was done by PCR-RFLP and PCR-ASA methods. Results The P-selectin variants rs1800807, rs1800805, and rs6127, were in Hardy Weinberg equilibrium, and low linkage disequilibrium was noted between the three studied SNPs. The frequency of rs6127 A allele ( P P  = 0.957) or rs1800805 A allele ( P  = 0.760), was higher in RPL cases than in control women. Significant differences in the distribution of rs6127 ( P P  = 0.444) or rs1800805 ( P  = 0.391) genotypes were seen between cases and controls, and only rs6127 showed a significant association with RPL, with increments of 2.65 and 4.96 in disease risk seen for heterozygous and homozygous carriers, respectively. Among the 8 three-locus Pselectin haplotypes constructed (rs1800807/rs1800805/rs6127), increased frequency of GGG ( Pc  = 0.0249), CGG ( Pc  = 0.0256), and CAG ( Pc  = 0.0174) haplotypes, and lower frequency of CGA haplotype ( Pc  = 0.0091) were seen in RPL cases, thus conferring disease susceptibility and protective nature to these haplotypes, respectively. Conclusions P-selectin gene polymorphisms and haplotypes contribute to RPL development.