Jones Michelle R, Italiano Lisa, Wilson Scott G, Mullin Ben H, Mead Robert, Dudbridge Frank, Watts Gerald F, Stuckey Bronwyn G A
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Fertil Steril. 2006 Nov;86(5):1438-46. doi: 10.1016/j.fertnstert.2006.04.027.
To investigate polymorphisms in androgen metabolism regulators that are implicated in the etiology of polycystic ovary syndrome (PCOS) in vitro; to investigate HSD17B6 and GATA6 to determine whether these genes are associated with susceptibility to PCOS or key phenotypic features of patients with PCOS.
Case-control association study.
Participants with PCOS were recruited from a clinical-practice database, and controls, from the general community.
PATIENT(S): One hundred seventy-three patients with PCOS and who were of Caucasian descent and conformed to the National Institutes of Health (NIH) diagnostic criteria; 107 normally ovulating women of Caucasian descent from the general community.
INTERVENTION(S): Drawing of blood for DNA extraction.
MAIN OUTCOME MEASURE(S): Frequency of HSD17B6 and GATA6 polymorphisms in cases and controls. Association of single-nucleotide polymorphisms from HSD17B6 in subjects with PCOS with key phenotypes of PCOS: androgen status, insulin resistance, and body mass index.
RESULT(S): Allele distribution for the single-nucleotide polymorphism rs898611 in HSD17B6 was significantly different between PCOS and control subjects (P=.03). Presence of the polymorphic allele was associated with reduced fasting glucose-insulin ratio (P=.02) and increased homeostasis model assessment (P<.01) and body mass index (P<.001) as well as with reduced T (P=.03) in the PCOS group. No association was seen between GATA6 and any of the variables studied.
CONCLUSION(S): These data suggest that polymorphisms in the HSD17B6 gene are associated with PCOS and key clinical phenotypes of the disorder.
在体外研究与多囊卵巢综合征（PCOS）病因相关的雄激素代谢调节因子的多态性；研究17β-羟类固醇脱氢酶6（HSD17B6）和GATA结合蛋白6（GATA6）基因，以确定这些基因是否与PCOS易感性或PCOS患者的关键表型特征相关。
病例对照关联研究。
PCOS参与者从临床实践数据库中招募，对照组从普通社区招募。
173例符合美国国立卫生研究院（NIH）诊断标准的白种人PCOS患者；107名来自普通社区的正常排卵的白种人女性。
采血用于DNA提取。
病例组和对照组中HSD17B6和GATA6多态性的频率。PCOS患者中HSD17B6单核苷酸多态性与PCOS关键表型的关联：雄激素状态、胰岛素抵抗和体重指数。
PCOS患者和对照组之间，HSD17B6基因单核苷酸多态性rs898611的等位基因分布存在显著差异（P = 0.03）。在PCOS组中，多态性等位基因的存在与空腹血糖-胰岛素比值降低（P = 0.02）、稳态模型评估升高（P < 0.01）、体重指数升高（P < 0.001）以及睾酮降低（P = 0.03）相关。未发现GATA6与任何研究变量之间存在关联。
这些数据表明，HSD17B6基因的多态性与PCOS及其关键临床表型相关。
