【摘要】 目的 CYP19基因编码产物芳香化酶在雄激素代谢中发挥重要作用。文中探讨CYP19A1基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点与多囊卵巢综合征(polycystic ovary syndrome,PCOS)发病及性激素的相关性。方法采用病例-对照的研究方法,以聚合酶链反应-限制性片段长度多态性法对373例PCOS者(PCOS组)和313例正常对照者(对照组)中CYP19A1基因多态性位点rs2899470进行基因分型,分析2组基因型频率及等位基因频率,并比较不同基因型与年龄、初潮年龄、体重指数(body mass index,BMI)及血清多种性激素水平的关系。结果对照组与PCOS组在年龄、BMI、激素水平差异有统计学意义(P<0.01),在AAM方面差异无统计学意义(P>0.01)。rs2899470基因型频率在PCOS组(GG:44.5%;TG:49.6%;TT:5.9%)和对照组(GG:39.3%;TG:48.6%;TT:12.1%)的分布差异有统计学意义(P=0.013),PCOS组等位基因G的频率明显高于对照组(69.3%vs 63.6%,P=0.025)。PCOS组雌激素/睾酮值与rs2899470基因型有关,PCOS组GG、TG、TT基因型差异有统计学意义(P<0.01)。结论 CYP19A1基因多态位点rs2899470与PCOS发病有相关性。PCOS患者的rs2899470基因型与血清雌激素/睾酮水平有关。更多还原

【Abstract】 Objective The CYP19 gene product enzyme aromatase mediates the conversion of the androgen testosterone to estradiol.The aim of this study is to investigate whether the CYP19A1 gene single nucleotide polymorphism( SNP) is associated with the susceptibility to polycystic ovary syndrome( PCOS) and serum hormone levels.Methods We conducted a case-controlled study,which included 373 PCOS patients and 313 healthy controls.We genotyped SNP rs2899470 in the subjects using the polymerase chain reactionrestriction fragment length polymorphism( PCR-RFLP) method and analyzed the frequencies of genotypes and alleles as well as the association of different genotypes with age,menarchal age,body mass index( BMI),and serum levels of hormones.Results The genotypic distributions of rs2899470 GG,TG,and TT in the PCOS women were 44.5%,49.6%,and 5.9%,respectively,significantly different from 39.3%,48.6%,and 12.1% in the healthy controls( P = 0.013).The frequency of the G allele was 69.3% in the former,remarkably higher than 63.6% in the latter( P = 0.025).The rs2899470 genotypic frequencies were associated with the serum E2 /T levels in the PCOS patients.Conclusion SNP rs2899470 in the CYP19A1 gene is associated with the susceptibility to PCOS,and so is the genotype of rs2899470 with serum E2 /T levels,which may be attributed mainly to the reduced activity of aromatase.更多还原