• Jiaqiang Zheng, Huacheng Yan, Lei Shi, Yanying Kong, Yongpan Zhao, Li Xie, Jian Li, Mukun Huang, Jin Li, and Shujin Zhao.
• Southern Medical University Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command Center for Disease Control and Prevention of Guangzhou Military Command, Guangzhou, China.
• Medicine (Baltimore). 2016 Aug 1; 95 (35): e4742e4742.

BackgroundThe CYP19A1 enzyme (aromatase) encoded by the cytochrome P450 (CYP) 19A1 gene influences the final step in the biosynthesis of estrogen, which has been associated with Alzheimer disease (AD). It is possible that genetic polymorphisms in CYP19A1 could influence the risk of AD by altering the expression of CYP19A1. The ε4 allele of the apolipoprotein E (APOE) gene, which is the most significant known genetic risk factor for AD, may mask the effects of other loci.MethodsTo assess the potential association of CYP19A1 gene polymorphisms with the risk of AD, we conducted a case-control study in a Chinese Han population by recruiting 463 cases, including 207 patients diagnosed with AD and 256 healthy people matched for sex and age.ResultsIn APOE ε4 carriers, the distributions of the G allele and the AG + GG genotype of CYP19A1 rs3751592 in patients differed significantly (P < 0.05) from those in healthy people. However, no difference was observed in the distribution of CYP19A1 rs1065778 between the patient and control populations, regardless of their APOE ε4 status.ConclusionThe results demonstrated that the rs3751592 A/G polymorphism of the CYP19A1 gene was associated with the incidence of AD in a Chinese Han population, which suggests that CYP19A1 rs3751592 is a predisposing genetic factor for AD.

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