Association between CYP19 gene SNP rs2414096 Polymorphism and polycystic ovary syndrome in Chinese women

Jia-Li Jin,Xiao-Ke Wu,Feng-Jing Liang,Jing Sun,Lu Ke,Zhi-Wei Wu,Long Yi,Hui-Juan Ge,Hai-Xiang Sun,Yong Wang,Yun-Xia Cao

doi:10.1186/1471-2350-10-139

Abstract

BackgroundSeveral 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.MethodsA 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.ResultsThe 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.ConclusionsOur data suggest that SNP rs2414096 in the CYP19 gene is associated with susceptibility to PCOS.

Highlights

Several studies have reported the association of the single nucleotide polymorphisms (SNPs) rs2414096 in the CYP19 gene with hyperandrogenism, which is one of the clinical manifestations of polycystic ovary syndrome (PCOS)
In view of the strong evidence implicating the importance of CYP19 SNP rs2414096 in androgen metabolic pathways, we investigated the impact of such gene polymorphisms on susceptibility of developing PCOS, especially characterized by clinical or biochemical hyperandrogenism in Chinese subjects
There were no significant differences in body mass index (BMI) and levels of other serum hormones, such as total T, luteinizing hormone (LH), and E2 (Table 3), among the three genotypes of CYP19 rs2414096 both in the patients with PCOS and the controls

Summary

Introduction

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. Several studies have reported the association of the SNP rs2414096 in the CYP19 gene with hyperandrogenism [3,14] These studies suggest that altered regulation of this enzyme may be involved in PCOS

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Conclusion