• PMID: 17651397
• Gene Name: CYP1A1
• Condition: Non-obstructive azoospermia or severe oligozoospermia, Male infertility
• Association: The analysis showed 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
• Population size: 418
• Population details: 418 (192 infertile patients with non-obstructive azoospermia or severe oligozoospermia, 226 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Non-obstructive azoospermia or severe oligozoospermia, Male infertility

Polymorphisms in CYP1A1 gene are associated with male infertility in a Chinese population

Lu N, Wu B, Xia Y, Wang W, Gu A, Liang J, Lu C, Song L, Wang S, Peng Y, Zhang Z, Wang X.

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. FAU - Lu, Ningxia AU - Lu N AD - Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, China. FAU - Wu, Bin AU - Wu B FAU - Xia, Yankai AU - Xia Y FAU - Wang, Wei AU - Wang W FAU - Gu, Aihua AU - Gu A FAU - Liang, Jie AU - Liang J FAU - Lu, Chuncheng AU - Lu C FAU - Song, Lin AU - Song L FAU - Wang, Shoulin AU - Wang S FAU - Peng, Yuzhu AU - Peng Y FAU - Zhang, Zhengdong AU - Zhang Z