title: Association of polymorphisms and haplotypes in the cytochrome P450 1B1 gene with uterine leiomyoma: A case control study.
abstract: Uterine leiomyoma (UL) is an estrogen-dependent neoplasm of the uterus and estrogen metabolizing enzymes affect its promotion and progression. The aim of the present study was to evaluate the association between four single-nucleotide polymorphisms (SNPs) of the cytochrome P450 1B1 (CYP1B1) gene and UL risk. Four SNPs of theCYP1B1gene in 105 UL patients and 112 unrelated healthy controls were genotyped using a direct sequencing method. Haplotype analyses were performed with UNPHASED software and linkage disequilibrium (LD) was assessed by Haploview software. There were no associations between Leu432Val (rs1056836), Asp449Asp (rs1056837) and Asn453Ser (rs1800440) polymorphisms of theCYP1B1gene and UL. Although the genotypic frequencies of the Arg368His (rs79204362) polymorphism did not differ between the two groups, the frequency of A (His) allele was significantly higher in UL females (P=0.02). In addition, the frequency of GTAA haplotype was significantly higher in the controls and played a protective role in UL susceptibility. A strong LD between the three common SNPs (rs1056836, rs1056837 and rs1800440) in theCYP1B1gene was observed in the population. In conclusion, a higher frequency of theCYP1B1368His (A) allele was observed in UL females. The frequency of the GTAA haplotype was significantly higher in healthy females and this haplotype played a protective role in UL susceptibility.
authors.affiliation: Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran ; Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Saeedeh
authors.initials: S
authors.lastname: Salimi
authors.affiliation: Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Khodamian
authors.affiliation: Department of Genetics, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran ; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, 9816743175, Iran.
authors.forename: Mehrnaz
authors.initials: M
authors.lastname: Narooie-Nejad
authors.affiliation: Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Azam
authors.initials: A
authors.lastname: Hajizadeh
authors.affiliation: Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9137913316, Iran.
authors.forename: Kimia
authors.initials: K
authors.lastname: Fazeli
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Lida
authors.initials: L
authors.lastname: Namazi
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Minoo
authors.initials: M
authors.lastname: Yaghmaei
keywords: CYP1B1; gene; haplotype; polymorphism; uterine leiomyoma