Objective: To examine whether a relationship exists between genetic polymorphisms of glutathione S-transferase (GST) M1 and T1, CYP1A1(*)2C, and male factor infertility.
Design: Genetic polymorphism analysis, case-control study.
Setting: University research laboratory and andrology clinic.
Patient(s): One hundred ten men with infertility and 105 healthy fertile men were recruited for the study.
Intervention(s): Physical examination of the genitalia of patients, scrotal colored Doppler ultrasound examination, and blood sampling were performed for DNA extraction and genotyping.
Main outcome measure(s): CYP1A1(*)2C, GSTM1, and GSTT1 polymorphism genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism methods. Seminal parameters were analyzed.
Result(s): There were significant differences between infertility and GSTM1, CYP1A1(*)2C genotypes by univariate analyses. A subject carrying CYP1A1 Val/Val or CYP1A1 Ile/Val in association with GSTM null genotype has 6.90 times more risk to be infertile than a subject carrying CYP1A1 Ile/Ile in association with GSTM1 wild-type genotype (odds ratio: 6.90, 95% confidence interval: 2.29-19.3). No correlation was found between the seminal parameters and the genetic variability.
Conclusion: Our results suggest that genetic polymorphisms of xenobiotic-metabolizing enzymes could play an important role in infertility.