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Cytochrome P-4501B1 (CYP1B1) Leu432Val polymorphism has been previously shown to be associated with some types of cancer and affects CYP1B1-mediated metabolism of various infertility drugs. To establish the frequency of CYP1B1 Leu432Val polymorphism among women with a history of infertility drug use, we studied the genotypes of 147 patients with breast cancer with a history of infertility and 150 cancer-free, infertile women (control group) in Northern Iran. A polymerase chain reaction-based restriction fragment length polymorphism assay was used to detect GG (Val/Val), CG (Leu/Val), and CC (Leu/Leu) genotype frequencies, which did not vary significantly between the 2patient groups (P = .847). We established for the first time that the incidence of CYP1B1 Leu432Val polymorphism is 46.6% among women with infertility history and breast cancer in Northern Iran. Finally, our results do not show any significant association between CYP1B1 Leu432Val polymorphism and breast cancer in infertile women in this region, who have also received infertility treatment. [ABSTRACT FROM AUTHOR]

Purpose: To investigate variations in sex ratio among Iranian primary congenital glaucoma (PCG) patients with and without mutations in the CYP1B1 gene and to evaluate possible clinical variations associated with sex in these two groups., Methods: Phenotypical data on 104 unrelated Iranian PCG patients who had previously been screened for CYP1B1 mutations were analyzed. Emphasis was placed on analysis of sex ratios among patients with and without CYP1B1 mutations. In addition to sex, familial and sporadic incidence and clinical features including age at onset, bilateral/unilateral involvement, corneal diameter, intraocular pressure, and cup-disc ratios were compared between these two groups. Information on phenotypical parameters was available for most but not all patients., Results: Among the 93 PCG patients whose sex was recorded, 57 were male (61.3%) and 36 were female (38.7%) (P=0.03). Patients with CYP1B1 mutations included 37 male (66.1%) and 29 female (43.9%) subjects (P=0.30), while patients without the mutation included 20 (74.1%) male and 7 (25.9%) female individuals (P=0.013). Our data did not provide conclusive evidence on difference in severity of the disease between those with and without CYP1B1 mutations, nor between the two sexes., Conclusion: Consistent with data on PCG patients from other populations, the overall incidence of PCG in Iran seems to be higher among male subjects. The difference in incidence between the two sexes was not significant among patients whose disease was due to mutations in CYP1B1. The overall higher incidence of PCG among male subjects seems to be attributable to a higher incidence in male patients not harboring CYP1B1 mutations, suggesting that other genes or factors may be involved in manifestation of PCG phenotypes in a sex dependent manner.