XPC gene belongs to DNA repair pathway, which is involved in the development of uterine leiomyoma. However, its relationships with leiomyoma risk were never reported. We here hypothesized that XPC gene was associated with the risk of uterine leiomyoma. In this case control study with a total of 391 leiomyoma cases and 493 tumor-free controls in a reproductive women population in South China, two missense polymorphisms rs2228001 A C (Lys939Gln) and rs2228000 C T (Ala499Val) were genotyped by quantitative polymerase chain reaction (qPCR). Then, the associations between these two polymorphisms and leiomyoma risk were investigated. It was revealed that the rs2228000 CT/TT variant genotypes had a decreased leiomyoma risk (adjusted odds ratio = 0.73, 95% confidence interval = 0.54 0.94) compared with rs2228000 CC genotype. Further stratified analysis also revealed that the protective effect of rs2228000 CT/TT on the risk of uterine leiomyoma was more evident among subjects who were younger than 35years old compared with those with larger tumors (diameter of tumor 5cm), and those with fewer number of myomas (only one). However, no significant association was observed for leiomyoma risk for rs2228001 A C. This study indicated that genetic variations in XPC gene are associated with leiomyoma susceptibility in a reproductive women population. It warrants further confirmation in larger prospective studies with different populations.
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