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[勃起功能障碍的遗传学方面]

[Genetic aspects of erectile dysfunction].

作者信息

Eisenhardt A, Sperling H, Rübben H

机构信息

Praxisklinik Urologie Rhein Ruhr, Schulstr. 11, 45468, Mülheim an der Ruhr, Deutschland,

出版信息

Urologe A. 2015 May;54(5):662-7. doi: 10.1007/s00120-015-3793-4.

DOI:10.1007/s00120-015-3793-4
PMID:25987331
Abstract

BACKGROUND

Erectile dysfunction (ED) is a common disorder in man that influences the quality of life of the patient and his partner. Known risk factors for ED comprise diabetes, coronary artery disease, hypertension but also lifestyle modifications such as smoking, diminished physical activity as well as obesity. In this manuscript the current scientific literature about genetics and erectile dysfunction is reviewed.

MATERIALS AND METHODS

A literature search using the databank PubMed covering the topics genetics and erectile dysfunction was performed and relevant papers selected for presentation.

RESULTS

Several aspects of genetics and ED are described in the current literature. Association studies of candidate polymorphisms and ED risk in comparison to healthy controls is a major area of research. Another topic is the genome-wide search for candidate polymorphisms with erectile dysfunction. The paper closes with the presentation of the pharmacogenomic analysis of treatment response to phosphodiesterase-5 inhibitors.

DISCUSSION

The heterogeneous results of genetic association studies are possibly due to small sample sizes of the study population and/or due to ethnic differences of the analyzed populations. This underlines the need for validation of this data in larger prospective multinational multicenter studies.

摘要

背景

勃起功能障碍(ED)是男性常见疾病,会影响患者及其伴侣的生活质量。已知的ED风险因素包括糖尿病、冠状动脉疾病、高血压,以及吸烟、体力活动减少和肥胖等生活方式改变。本文对当前有关遗传学与勃起功能障碍的科学文献进行综述。

材料与方法

利用PubMed数据库进行文献检索,检索主题为遗传学与勃起功能障碍,并选择相关论文进行展示。

结果

当前文献描述了遗传学与ED的几个方面。与健康对照相比,候选多态性与ED风险的关联研究是一个主要研究领域。另一个主题是全基因组搜索勃起功能障碍的候选多态性。本文最后介绍了对磷酸二酯酶-5抑制剂治疗反应的药物基因组学分析。

讨论

遗传关联研究结果的异质性可能是由于研究人群样本量小和/或所分析人群的种族差异。这突出表明需要在更大规模的前瞻性跨国多中心研究中验证这些数据。

相似文献

1
[Genetic aspects of erectile dysfunction].[勃起功能障碍的遗传学方面]
Urologe A. 2015 May;54(5):662-7. doi: 10.1007/s00120-015-3793-4.
2
Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.应用 DCCT/EDIC 研究队列进行全基因组关联搜索,鉴定 1 型糖尿病勃起功能障碍风险的潜在相关位点。
J Urol. 2012 Aug;188(2):514-20. doi: 10.1016/j.juro.2012.04.001. Epub 2012 Jun 15.
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Urologe A. 2007 Mar;46(3):287-92. doi: 10.1007/s00120-006-1244-y.
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A 2-stage genome-wide association study to identify single nucleotide polymorphisms associated with development of erectile dysfunction following radiation therapy for prostate cancer.一项针对前列腺癌放射治疗后勃起功能障碍的全基因组关联研究 2 期,旨在鉴定与发病相关的单核苷酸多态性。
Int J Radiat Oncol Biol Phys. 2013 Jan 1;85(1):e21-8. doi: 10.1016/j.ijrobp.2012.08.003. Epub 2012 Sep 26.
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J Sex Med. 2006 Jan;3(1):28-36; discussion 36. doi: 10.1111/j.1743-6109.2005.00196.x.

本文引用的文献

1
Stem cell treatment of erectile dysfunction.干细胞治疗勃起功能障碍。
Adv Drug Deliv Rev. 2015 Mar;82-83:137-44. doi: 10.1016/j.addr.2014.11.012. Epub 2014 Nov 14.
2
A 2-stage genome-wide association study to identify single nucleotide polymorphisms associated with development of erectile dysfunction following radiation therapy for prostate cancer.一项针对前列腺癌放射治疗后勃起功能障碍的全基因组关联研究 2 期,旨在鉴定与发病相关的单核苷酸多态性。
Int J Radiat Oncol Biol Phys. 2013 Jan 1;85(1):e21-8. doi: 10.1016/j.ijrobp.2012.08.003. Epub 2012 Sep 26.
3
RETRACTED: G-protein β3 subunit gene 825C/T polymorphism and its association with the presence, severity, and duration of vasculogenic erectile dysfunction.
撤回:G 蛋白β3 亚基基因 825C/T 多态性及其与血管性勃起功能障碍的存在、严重程度和持续时间的关系。
Fertil Steril. 2013 Jan;99(1):69-75.e5. doi: 10.1016/j.fertnstert.2012.08.033. Epub 2012 Sep 15.
4
Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.应用 DCCT/EDIC 研究队列进行全基因组关联搜索,鉴定 1 型糖尿病勃起功能障碍风险的潜在相关位点。
J Urol. 2012 Aug;188(2):514-20. doi: 10.1016/j.juro.2012.04.001. Epub 2012 Jun 15.
5
Endothelial nitric oxide synthase genotypes and haplotypes modify the responses to sildenafil in patients with erectile dysfunction.内皮型一氧化氮合酶基因型和单倍型可改变勃起功能障碍患者对西地那非的反应。
Pharmacogenomics J. 2013 Apr;13(2):189-96. doi: 10.1038/tpj.2011.49. Epub 2011 Nov 8.
6
Erectile dysfunction and risk of cardiovascular disease: meta-analysis of prospective cohort studies.勃起功能障碍与心血管疾病风险:前瞻性队列研究的荟萃分析。
J Am Coll Cardiol. 2011 Sep 20;58(13):1378-85. doi: 10.1016/j.jacc.2011.06.024.
7
Association of the T-786C, G894T and 4a/4b polymorphisms of the endothelial nitric oxide synthase gene with vasculogenic erectile dysfunction in Iranian subjects.内皮型一氧化氮合酶基因 T-786C、G894T 和 4a/4b 多态性与伊朗人群血管性勃起功能障碍的相关性。
BJU Int. 2011 Jun;107(12):1994-2001. doi: 10.1111/j.1464-410X.2010.09755.x. Epub 2010 Oct 18.
8
Increased risk of stroke among men with erectile dysfunction: a nationwide population-based study.勃起功能障碍男性中风风险增加:一项全国范围内基于人群的研究。
J Sex Med. 2011 Jan;8(1):240-6. doi: 10.1111/j.1743-6109.2010.01973.x. Epub 2010 Aug 16.
9
Genetic association study of the GNB3 C825T, the ACE I/D and the eNOS G894T polymorphisms and the risk to develop erectile dysfunction in a German ED population.GNB3 C825T、ACE I/D 和 eNOS G894T 多态性与德国 ED 人群发生勃起功能障碍风险的遗传关联研究。
Andrologia. 2010 Aug;42(4):218-24. doi: 10.1111/j.1439-0272.2009.00975.x.
10
Definitions/epidemiology/risk factors for sexual dysfunction.定义/流行病学/性功能障碍的危险因素。
J Sex Med. 2010 Apr;7(4 Pt 2):1598-607. doi: 10.1111/j.1743-6109.2010.01778.x.