中文摘要：

目的了解单核苷酸多态性位点（ SNP） rs1333049与多囊卵巢综合征（ PCOS）的关系。方法采用以睾酮激素水平配对的患者作为对照者进行研究,对139例PCOS患者及141例对照者进行研究。采用实时荧光PCR TaqMan探针方法对 INK4区域反义非编码 RNA （ ANRIL ）的一个SNPrs1333049进行基因分型分析。结果在PCOS患者中,各项生化指标和临床表现在各基因型之间差异无统计学意义。 PCOS患者和对照者间基因型分布和等位基因频率差异无统计学意义（χ2=1.87, P=0.17；χ2=3.25, P=0.20）。结论染色体9p21上rs1333049多态性与PCOS高雄激素患者无关。

英文摘要：

Objective To investigate the association between rs1333049 polymorphism and the risk of polycystic o-varian syndrome（ PCOS） in Chinese population. Methods 139 PCOS patients and 141 healthy control were divid-ed in two groups by the level of testosterone. The TaqMan real time PCR technique was used to detect the genotypes of a single nucleotide polymorphism rs1333049 in ANRIL from the samples. Results In PCOS women, no signifi-cant differences in endocrine clinical and biochemical variables were found between the genotypes. There was no significant difference in genotype distributions and allele frequencies for rs1333049 between PCOS patients and con-trols. （χ2=1.87, P =0.17; χ2=3.25, P =0.20）. Conclusion This study demonstrates no association of rs1333049 polymorphism locus on chromosome 9p21 with the risk for PCOS in Han Chinese.