title: Association between CYP17A1 rs3824755 and rs743572 gene polymorphisms and Alzheimer's disease in the Chinese Han population.
abstract: The CYP17A1 gene encodes cytochrome P450c17α, an enzyme that catalyzes the formation of sex hormones, which have been linked to the pathogenesis of Alzheimer's disease (AD). An association between the CYP17A1 rs743572 single nucleotide polymorphism (SNP) and AD has been reported; however, the findings are controversial. In the present study, we investigated the association between rs743572 and another SNP, rs3824755, and AD risk in a Chinese Han population (n=207 patients and 239 controls), and their interaction with the apolipoprotein E (APOE) e4 allele. We found that the C allele and GC+CC genotypes of rs3824755 conferred protection against AD only in APOE e4 carriers. Both rs3824755 and rs743572 polymorphisms showed interactions with APOE e4. The C allele and GC+CC genotypes of rs3824755 acted as protective factors that decreased the risk of APOE e4 in AD. The CYP17A1 rs743572G allele and AG+GG genotypes were found to be potential risk factors that act synergetically with APOE e4. Moreover, the CA and GG haplotypes were protective and conferred a slight risk, respectively, in APOE e4 carriers. These results indicate that CYP17A1 rs3824755 and rs743572 are associated with AD in the Chinese Han population and act in combination with APOE e4.
authors.affiliation: Guangzhou University of Traditional Chinese Medicine, Guangzhou 510006, China; Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China.
authors.forename: Li
authors.initials: L
authors.lastname: Xie
authors.affiliation: Center for Disease Control and Prevention of Guangzhou Military Command, Guangzhou 510507, China; Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China. Electronic address: watshing@126.com.
authors.forename: Huacheng
authors.initials: H
authors.lastname: Yan
authors.affiliation: Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Shi
authors.affiliation: Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China.
authors.forename: Yanying
authors.initials: Y
authors.lastname: Kong
authors.affiliation: Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China.
authors.forename: Mukun
authors.initials: M
authors.lastname: Huang
authors.affiliation: Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China.
authors.forename: Jiaqiang
authors.initials: J
authors.lastname: Zheng
authors.affiliation: Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China.
authors.forename: Yongpan
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou 510010, China. Electronic address: gzzsjzhs@163.com.
authors.forename: Shujin
authors.initials: S
authors.lastname: Zhao
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: D053327:Apolipoprotein E4; C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase
keywords: Alzheimer’s disease; Apolipoprotein E; CYP17A1; Estrogen; Single nucleotide polymorphism