title: Polymorphisms in CYP1A1 gene are associated with male infertility in a Chinese population.
abstract: Cytochrome P4501A1 (CYP1A1) is a key enzyme in phase I bioactivation of polycyclic aromatic hydrocarbons (PAHs), which have potential reproductive toxicity. The aim of this study was to investigate the association of the CYP1A1 polymorphisms with male infertility in a Han-Chinese population. We genotyped two polymorphisms, CYP1A1*2A and CYP1A1*2C, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a hospital-based case-control study including 192 infertile patients with non-obstructive azoospermia or severe oligozoospermia and 226 fertile controls. We found that the genotype distribution of CYP1A1*2C was significantly different between the patients and the controls (p = 0.019). Analysis showed that CYP1A1*2C AG genotype was associated with a significantly decreased risk of male infertility [odds ratio (OR) = 0.56, 95% confidence interval (95% CI) = 0.36-0.86, p = 0.005] compared with the AA genotype. A statistically significantly decreased risk of male infertility was found to be associated with the CYP1A1*2C AG genotype plus GG genotype compared with CYP1A1*2C AA genotype (OR = 0.60, 95% CI = 0.40-0.91, p = 0.011). No significant association was detected between CYP1A1*2A polymorphism and male infertility. Haplotypic analysis showed a significantly increased risk of male infertility associated with the C-A haplotype compared with the T-A haplotype (OR = 1.98, 95% CI = 1.27-3.09), indicating a synergic effect of the two polymorphisms. Our results suggest that the CYP1A1 polymorphisms may contribute to the pathogenesis of male infertility in the Han-Chinese population.
authors.affiliation: Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, China.
authors.forename: Ningxia
authors.initials: N
authors.lastname: Lu
authors.forename: Bin
authors.initials: B
authors.lastname: Wu
authors.forename: Yankai
authors.initials: Y
authors.lastname: Xia
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Aihua
authors.initials: A
authors.lastname: Gu
authors.forename: Jie
authors.initials: J
authors.lastname: Liang
authors.forename: Chuncheng
authors.initials: C
authors.lastname: Lu
authors.forename: Lin
authors.initials: L
authors.lastname: Song
authors.forename: Shoulin
authors.initials: S
authors.lastname: Wang
authors.forename: Yuzhu
authors.initials: Y
authors.lastname: Peng
authors.forename: Zhengdong
authors.initials: Z
authors.lastname: Zhang
authors.forename: Xinru
authors.initials: X
authors.lastname: Wang
mesh_terms: D002681:China; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: D019363:Cytochrome P-450 CYP1A1