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本文引用的文献

1
Lack of association between common polymorphisms in the 17beta-hydroxysteroid dehydrogenase type V gene (HSD17B5) and precocious pubarche.17β-羟类固醇脱氢酶Ⅴ型基因（HSD17B5）常见多态性与青春期阴毛早现之间不存在关联。
J Steroid Biochem Mol Biol. 2007 Jun-Jul;105(1-5):176-80. doi: 10.1016/j.jsbmb.2007.01.004. Epub 2007 May 17.
2
Genetics of polycystic ovarian syndrome.多囊卵巢综合征的遗传学
Clin Obstet Gynecol. 2007 Mar;50(1):188-204. doi: 10.1097/GRF.0b013e3180305f7c.
3
The genetics of the polycystic ovary syndrome.多囊卵巢综合征的遗传学
Nat Clin Pract Endocrinol Metab. 2007 Feb;3(2):103-11. doi: 10.1038/ncpendmet0400.
4
Variants in the 5alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women.1型和2型5α-还原酶基因的变异与多囊卵巢综合征以及受影响女性多毛症的严重程度相关。
J Clin Endocrinol Metab. 2006 Oct;91(10):4085-91. doi: 10.1210/jc.2006-0227. Epub 2006 Jul 18.
5
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.与可的松还原酶缺乏症相关的变异不会导致常见形式的多囊卵巢综合征易感性增加。
Clin Endocrinol (Oxf). 2006 Jul;65(1):64-70. doi: 10.1111/j.1365-2265.2006.02547.x.
6
Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome.多囊卵巢综合征的诊断、流行病学及遗传学
Best Pract Res Clin Endocrinol Metab. 2006 Jun;20(2):193-205. doi: 10.1016/j.beem.2006.02.005.
7
Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome.鉴定与多囊卵巢综合征相关的人类5型17β-羟类固醇脱氢酶基因的功能性多态性。
J Clin Endocrinol Metab. 2006 Jan;91(1):270-6. doi: 10.1210/jc.2005-2012. Epub 2005 Nov 1.
8
Haploview: analysis and visualization of LD and haplotype maps.Haploview：连锁不平衡（LD）和单倍型图谱的分析与可视化
Bioinformatics. 2005 Jan 15;21(2):263-5. doi: 10.1093/bioinformatics/bth457. Epub 2004 Aug 5.
9
The prevalence and features of the polycystic ovary syndrome in an unselected population.未选择人群中多囊卵巢综合征的患病率及特征
J Clin Endocrinol Metab. 2004 Jun;89(6):2745-9. doi: 10.1210/jc.2003-032046.
10
Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone.CYP11A启动子变异、多囊卵巢综合征与血清睾酮之间关系的大规模分析
J Clin Endocrinol Metab. 2004 May;89(5):2408-13. doi: 10.1210/jc.2003-031640.

5型17β-羟类固醇脱氢酶基因与多囊卵巢综合征无关联。

Nonreplication of the type 5 17beta-hydroxysteroid dehydrogenase gene association with polycystic ovary syndrome.

作者信息

Goodarzi Mark O, Jones Michelle R, Antoine Heath J, Pall Marita, Chen Yii-Der I, Azziz Ricardo

机构信息

Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

出版信息

J Clin Endocrinol Metab. 2008 Jan;93(1):300-3. doi: 10.1210/jc.2007-1712. Epub 2007 Oct 16.

DOI:10.1210/jc.2007-1712
PMID:17940109
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2190745/
Abstract

CONTEXT

Increased androgen production is a primary feature of polycystic ovary syndrome (PCOS) and appears to be an inherited trait. The gene for the steroidogenic enzyme type 5 17beta hydroxysteroid dehydrogenase (HSD17B5) was implicated as a candidate for the hyperandrogenemia of PCOS by a previous study that demonstrated an association of a single nucleotide polymorphism (SNP) in the promoter of this gene with PCOS.

OBJECTIVE

The objective of the study was to replicate the previous report of association between the HSD17B5 gene and PCOS risk by genotyping the promoter SNP (as well as other SNPs in the region to provide improved coverage of the gene) in a large, well-characterized cohort suitable for replication study.

DESIGN

Women with and without PCOS were genotyped for five SNPs in HSD17B5. SNPs and haplotypes were determined and tested for association with PCOS risk and phenotypic markers of PCOS.

SETTING

Subjects were recruited from the reproductive endocrinology clinic at the University of Alabama at Birmingham; controls were recruited from the surrounding community. Genotyping took place at Cedars-Sinai Medical Center in Los Angeles.

PARTICIPANTS

Participants included 287 white women with PCOS and 187 white controls.

MAIN MEASUREMENTS

HSD17B5 genotype, PCOS risk, and testosterone levels were measured.

RESULTS

No SNP or haplotype was significantly associated with PCOS risk, testosterone, or any of the traits tested.

CONCLUSIONS

These data suggest that polymorphisms in the HSD17B5 gene are not associated with PCOS risk or elevated testosterone as previously reported.

摘要

背景

雄激素分泌增加是多囊卵巢综合征（PCOS）的主要特征，且似乎是一种遗传性状。一项先前的研究表明，类固醇生成酶5型17β-羟类固醇脱氢酶（HSD17B5）基因启动子中的单核苷酸多态性（SNP）与PCOS相关，该基因因此被认为是PCOS高雄激素血症的候选基因。

目的

本研究的目的是通过对一个适合进行重复研究的大型、特征明确的队列中的启动子SNP（以及该区域的其他SNP，以更好地覆盖该基因）进行基因分型，来重复先前关于HSD17B5基因与PCOS风险之间关联的报道。

设计

对患有和未患有PCOS的女性进行HSD17B5基因中五个SNP的基因分型。确定SNP和单倍型，并测试其与PCOS风险及PCOS表型标志物的关联。

地点

研究对象从阿拉巴马大学伯明翰分校的生殖内分泌诊所招募；对照组从周边社区招募。基因分型在洛杉矶的雪松西奈医疗中心进行。

参与者

参与者包括287名患有PCOS的白人女性和187名白人对照。

主要测量指标

测量HSD17B5基因型、PCOS风险和睾酮水平。

结果

没有SNP或单倍型与PCOS风险、睾酮或任何测试的性状显著相关。

结论

这些数据表明，HSD17B5基因的多态性与PCOS风险或睾酮升高无关，与先前报道的结果不同。