Association between CYP19 gene SNP rs2414096 polymorphism and polycystic ovary syndrome in Chinese women.
BACKGROUND
Several studies have reported the association of the SNP rs2414096 in the CYP19 gene with hyperandrogenism, which is one of the clinical manifestations of polycystic ovary syndrome (PCOS). These studies suggest that SNP rs2414096 may be involved in the etiopathogenisis of PCOS. To investigate whetherthe CYP19 gene SNP rs2414096 polymorphism is associated with the susceptibility to PCOS, we designed a case-controlled association study including 684 individuals.


METHODS
A case-controlled association study including 684 individuals (386 PCOS patients and 298 controls) was performed to assess the association of SNP rs2414096 with PCOS. Genotyping of SNP rs2414096 was conducted by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method that was performed on genomic DNA isolated from blood leucocytes. Results were analyzed in respect to clinical test results.


RESULTS
The genotypic distributions of rs2414096 (GG, AG, AA) in the CYP19 gene (GG, AG, AA) in women with PCOS (0.363, 0.474, 0.163, respectively) were significantly different from that in controls (0.242, 0.500, 0.258, respectively) (P = 0.001). E2/T was different between the AA and GG genotypes. Age at menarche (AAM) and FSH were also significantly different among the GG, AG, and AA genotypes in women with PCOS (P = 0.0391 and 0.0118, respectively). No differences were observed in body mass index (BMI) and other serum hormone concentrations among the three genotypes, either in the PCOS patients or controls.


CONCLUSIONS
Our data suggest that SNP rs2414096 in the CYP19 gene is associated with susceptibility to PCOS.
Jin
Jia-Li
JL
Jiangsu Key Laboratory of Molecular Medicine & The reproductive medicine Center of Drum Tower Hospital, Medical School of Nanjing University, Nanjing 210093, China.
Sun
Jing
J
Ge
Hui-Juan
HJ
Cao
Yun-Xia
YX
Wu
Xiao-Ke
XK
Liang
Feng-Jing
FJ
Sun
Hai-Xiang
HX
Ke
Lu
L
Yi
Long
L
Wu
Zhi-Wei
ZW
Wang
Yong
Y
D000328:Adult; D001141:Aromatase / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D015992:Body Mass Index; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
D001141:Aromatase