Background: To identify recurrent pregnancy loss (RPL)-related genetic variants in exons of TP53 gene in a population of Chinese Han women.
Methods: This study is a case control study. The cases comprised 90 Chinese Han women with RPL. Another 90 women with at least one child and not more than one miscarriage were recruited as the controls. All exons of TP53 were amplified from genomic DNA and sequenced.
Results: A total of five single-nucleotide polymorphisms (SNPs) were identified in both RPL and control women, namely rs1642785 G>C, rs1042522 G>C, rs4968187 G>A, rs17884306 G>A, and rs55817367 A>G. A significant difference was only observed for rs17884306 between cases and controls. The wild type G allele was associated with an increased risk of RPL. AA+GA genetic variants significantly decreased the risk of RPL compared with GG variant (odds ratio [OR] = 0.315, 95% confidence interval [CI]: 0.125 - 0.793, p = 0.014). Linkage disequilibrium exits between rs17884306 and rs1642785 and A-C double mutant haplotype showed significantly lower risk of RPL compared with G-G wild type haplotype (OR = 0.303, 95% CI: 0.117 - 0.786, p = 0.014). Model based-multifactor dimensionality reduction indicated that the influence of rs17884306 had interaction with the genotypes of four other loci (all p < 0.05). However, rs17884306 G>A did not cause amino acid substitution.
Conclusions: Our study showed that rs17884306 c.826G>A was a novel polymorphism associated with RPL in Chinese Han women. Moreover, the influence of this SNP on RPL is not associated with p53 amino acid sequence.