Objective: The mutant genotype GG of the CYP17A1 gene polymorphism has been linked to higher levels of serum estradiol and thus might be associated with steroid-hormone dependent tumors. We decided to assess an association of CYP17A1 polymorphism with uterine leiomyomas (ULM) and multiple ULM by conducting a meta-analysis and subgroup analysis.
Methods: We searched the HuGE Navigator and PubMed databases using the terms "leiomyoma" and "CYP17A1" for articles published by October 1, 2010. Our article in press was added. The selection criteria were (i) cases having ULM, (ii) controls showing no ULM from the same ethnic group, (iii) cases and controls not overlapping. The subgroup analysis included cases having multiple ULM, predisposing black women mostly present with multiple ULM. Pooled risk ratio was calculated using χ<formula> ^{2}</formula> statistic.
Results: Five papers fulfilled the selection criteria for meta-analysis and two papers for the subgroup analysis. The meta-analysis revealed no association of CYP17A1 polymorphism with all ULM. A high pooled risk ratio for multiple ULM was associated with the presence of mutant genotype GG (RR 3.25).
Conclusion: CYP17A1 polymorphism may be associated with multiple ULM but not with all ULM. The future research might enable us to predict the course of the disease.