Association of the GWAS-significant uterine fibroid locus rs2235529 WNT4 with the risk of the multiple UF phenotype

Abstract

This study is the first to investigate the association of GWAS polymorphisms with the risk of multiple uterine fibroids (UFs). Genotyping of 17 SNPs was performed in 570 patients with UFs (337 with multiple and 233 with single nodules) using real-time PCR. The T allele of the rs2235529 variant in the WNT4 gene was significantly associated with an increased risk of multiple UFs (OR = 1.51; 95% CI = 1,04–2,18; p = 0.026). Functional interpretation indicated that this allele influences the binding sites for transcription factors involved in key pathways of proliferation, inflammation and muscle organ development, and is also associated with an increased BMI. These results suggest that the rs2235529 variant in WNT4 could serve as a potential biomarker for the personalized prediction of multiple UF risk.