title: SNP rs2470152 in CYP19 is correlated to aromatase activity in Chinese             polycystic ovary syndrome patients.
abstract: CYP19 encodes aromatase, a key enzyme essential for estrogen biosynthesis.             Single nucleotide polymorphism (SNP) rs2470152 in CYP19 is associated with serum             estradiol (E2) level and the E2/T (estradiol/testosterone) ratio. A case‑control             study including 661 individuals [364 polycystic ovary syndrome (PCOS) patients             and 297 controls] was conducted to assess the association of SNP rs2470152 with             PCOS. The subjects were genotyped using the polymerase chain reaction-restriction             fragment length polymorphism method. Hormone levels were analyzed among various             genotypes. The genotypic distributions of rs2470152 did not differ in PCOS patients             when compared to the controls. However, differences in the E2/T ratio were detected,             exhibiting a lower ratio in the heterozygous TC genotype in PCOS patients (p=0.01036)             and controls (p=0.000). Testosterone levels also differed between the three genotypes             of PCOS patients (p=0.00625), with a higher level in the TC genotype. Therefore,             rs2470152 in CYP19 was not a major etiological factor for PCOS; however, the heterozygous             TC genotype may inhibit aromatase activity, resulting in hyperandrogenism, particularly             in PCOS patients.
authors.affiliation: Center for Translational Medicine and Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing 210093, PR China.
authors.forename: Xin-Lin
authors.initials: XL
authors.lastname: Zhang
authors.forename: Cheng-Wei
authors.initials: CW
authors.lastname: Zhang
authors.forename: Pei
authors.initials: P
authors.lastname: Xu
authors.forename: Feng-Jing
authors.initials: FJ
authors.lastname: Liang
authors.forename: Ye-Na
authors.initials: YN
authors.lastname: Che
authors.forename: Yan-Jie
authors.initials: YJ
authors.lastname: Xia
authors.forename: Yun-Xia
authors.initials: YX
authors.lastname: Cao
authors.forename: Xiao-Ke
authors.initials: XK
authors.lastname: Wu
authors.forename: Wen-Jun
authors.initials: WJ
authors.lastname: Wang
authors.forename: Long
authors.initials: L
authors.lastname: Yi
authors.forename: Qian
authors.initials: Q
authors.lastname: Gao
authors.forename: Yong
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000328:Adult; D000483:Alleles; D001141:Aromatase / Q000235:genetics* / Q000378:metabolism; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D004958:Estradiol / Q000097:blood; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D017588:Hyperandrogenism / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000201:enzymology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013739:Testosterone / Q000097:blood
chemical_list: D013739:Testosterone; D004958:Estradiol; D001141:Aromatase