Jiangsu Key Laboratory of Molecular Medicine & the Reproductive Medicine Center of Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China.
J Womens Health (Larchmt). 2010 Dec;19(12):2227-32. doi: 10.1089/jwh.2009.1902. Epub 2010 Nov 1.
To investigate the polymorphisms of the 17β-hydroxysteroid dehydrogenase type 5 and type 6 (HSD17B5 and HSD17B6) genes in Chinese women with polycystic ovary syndrome (PCOS).
Two hundred twenty-two PCOS patients and 283 controls were studied. Menarche age was recorded. Body mass indices (BMI) were calculated. Blood samples were obtained for single nucleotide polymorphism (SNP) analyses and hormone measurements. Genotyping of HSD17B6 and HSD17B5 in cases and controls was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.
The SNP rs898611 of the HSD17B6 gene (TT, CT, CC) in women with PCOS (0.680, 0.270, 0.050, respectively) did not differ from those in controls (0.700, 0.258, 0.042, respectively), and the SNP rs3763676 of the HSD17B5 gene (AA, AG, GG) was rare in Chinese women. Total testosterone and other reproductive hormones, such as follicle-stimulating hormone (FSH), luteinizing hormone (LH), LH/FSH, and estradiol (E(2)), were also similar among the different genotypes of the HSD17B6 in the PCOS subjects and the controls, whereas BMI was different in the three genotypes of the HSD17B6 in PCOS subjects.
Our data suggest that there is no association of HSD17B6 and HSD17B5 variants with the occurrence of PCOS in the Chinese population, but the polymorphism of SNP rs898611 is associated with BMI in PCOS patients.
研究中国人多囊卵巢综合征（PCOS）患者中 17β-羟甾类脱氢酶 5 型和 6 型（HSD17B5 和 HSD17B6）基因的多态性。
研究了 222 例 PCOS 患者和 283 例对照者。记录初潮年龄，计算体重指数（BMI）。采集血样进行单核苷酸多态性（SNP）分析和激素测定。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对病例组和对照组的 HSD17B6 和 HSD17B5 基因进行基因分型。
PCOS 患者中 HSD17B6 基因的 SNP rs898611（TT、CT、CC）分别为 0.680、0.270、0.050，与对照组（0.700、0.258、0.042）不同，HSD17B5 基因的 SNP rs3763676 在中国人中罕见。总睾酮和其他生殖激素如卵泡刺激素（FSH）、黄体生成素（LH）、LH/FSH 和雌二醇（E2）在 PCOS 患者和对照组中不同 HSD17B6 基因型之间也相似，而 BMI 在 PCOS 患者的 HSD17B6 三种基因型之间存在差异。
我们的数据表明，HSD17B6 和 HSD17B5 变体与中国人 PCOS 的发生无关，但 SNP rs898611 的多态性与 PCOS 患者的 BMI 相关。
