Genetic Association of PCSK5 and MUC2 Gene Polymorphisms with Recurrent Pregnancy Loss (RPL)

Recurrent pregnancy loss (RPL) is defined as the occurrence of two or more consecutive pregnancy losses before 20 weeks of gestation, encompassing both embryonic and fetal losses. Although previous studies have provided substantial insights into RPL, the causes in many cases remain unexplained. This lack of information has prompted continued investigation into various risk factors, including those identified through next-generation sequencing (NGS). In the present study, whole-exome sequencing (WES) was used to identify genes potentially associated with RPL and infertility, which may serve as novel biomarkers. Confirmation of the association between these genetic variants and RPL may help to develop functional biomarkers for early diagnosis. The findings revealed that the PCSK5 rs1110222 G > A polymorphism was significantly associated with a reduced risk of RPL. In contrast, the MUC2 rs10902088 C > T polymorphism was associated with an increased risk of RPL among women with more than four pregnancy losses. Notably, the A-T allele combination of PCSK5 rs1110222 G > A and MUC2 rs10902088 C > T showed a significant association with a decreased risk of RPL relative to the G-C combination. In conclusion, this study confirms that the PCSK5 rs1110222 G > A and MUC2 rs10902088 C > T polymorphisms are genetically associated with the prevalence of RPL in Korean women.