CYP19 基因 SNP rs2414096 多态性与中国女性多囊卵巢综合征的相关性。
Association between CYP19 gene SNP rs2414096 polymorphism and polycystic ovary syndrome in Chinese women.
机构信息
Jiangsu Key Laboratory of Molecular Medicine & The reproductive medicine Center of Drum Tower Hospital, Medical School of Nanjing University, Nanjing 210093, China.
出版信息
BMC Med Genet. 2009 Dec 16;10:139. doi: 10.1186/1471-2350-10-139.
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.
背景
几项研究报告称，CYP19 基因中的 SNP rs2414096 与高雄激素血症有关，高雄激素血症是多囊卵巢综合征（PCOS）的临床表现之一。这些研究表明，SNP rs2414096 可能参与 PCOS 的病因发病机制。为了研究 CYP19 基因 SNP rs2414096 多态性是否与 PCOS 的易感性相关，我们设计了一项包括 684 名个体的病例对照关联研究。
方法
我们进行了一项包括 684 名个体（386 名 PCOS 患者和 298 名对照）的病例对照关联研究，以评估 SNP rs2414096 与 PCOS 的相关性。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对 SNP rs2414096 进行基因分型，该方法在从血液白细胞中分离的基因组 DNA 上进行。结果根据临床检测结果进行分析。
结果
PCOS 患者 CYP19 基因（GG、AG、AA）中 rs2414096 的基因型分布（GG、AG、AA）分别为 0.363、0.474、0.163，与对照组（0.242、0.500、0.258）差异有统计学意义（P=0.001）。AA 和 GG 基因型之间的 E2/T 不同。在 PCOS 患者中，初潮年龄（AAM）和 FSH 在 GG、AG 和 AA 基因型之间也存在显著差异（P=0.0391 和 0.0118）。在 PCOS 患者和对照组中，三种基因型之间的体重指数（BMI）和其他血清激素浓度均无差异。
结论
我们的数据表明，CYP19 基因中的 SNP rs2414096 与 PCOS 的易感性有关。
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