Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.
Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.
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DOI：
10.1002/bdra.23021
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发表时间：
2012-07
影响因子：
--
通讯作者：
Lammer, Edward J.
中科院分区：
文献类型：
--
作者：
Carmichael, Suzan L.;Shaw, Gary M.;Lammer, Edward J.
该综述评价了目前有关尿路下裂流行趋势的知识，尿路下裂与内分泌干扰暴露的关系，以及遗传易感性对其病因的潜在贡献。综述的重点是流行病学证据。观察到尿道下裂的患病率越来越高，但这种增加往往局限于特定的地区或时间段。因此，关于尿道下裂正在增加的笼统说法是不被支持的。由于研究设计的局限性和不一致的结果，不能就内分泌干扰暴露与尿道下裂之间的联系得出确切的结论。更严格的研究设计(例如，更大和更详细的表型)和包含更广泛和更深入的暴露评估(例如，特定的内分泌相关化学物质)的研究，对于更好地推断这些重要的环境暴露至关重要。许多候选基因已经被识别出来，但很少有人被检测到能够得出可靠结论的程度。还需要进一步的研究，包括更大的样本量，更能代表病例来源的人群的比较组，特定表型的分析，以及更广泛的变异探索。总之，研究环境和遗传因素与尿道下裂的关系仍然是重要的研究领域，尽管我们目前对它们对人类尿道下裂风险的实际了解是有限的。
This review evaluates current knowledge related to trends in the prevalence of hypospadias, the association of hypospadias with endocrine-disrupting exposures, and the potential contribution of genetic susceptibility to its etiology. The review focuses on epidemiologic evidence. Increasing prevalence of hypospadias has been observed, but such increases tend to be localized to specific regions or time periods. Thus, generalized statements that hypospadias is increasing are unsupported. Due to limitations of study designs and inconsistent results, firm conclusions cannot be made regarding the association of endocrine-disrupting exposures with hypospadias. Studies with more rigorous study designs (e.g., larger and more detailed phenotypes) and exposure assessment that encompasses more breadth as well as depth (e.g., specific endocrine-related chemicals) will be critical to make better inferences about these important environmental exposures. Many candidate genes for hypospadias have been identified, but few of them have been examined to an extent that enables solid conclusions. Further studies are needed that include larger sample sizes, comparison groups that are more representative of the populations from which the cases were derived, phenotype-specific analyses, and more extensive exploration of variants. In conclusion, examining the associations of environmental and genetic factors with hypospadias remain important areas of inquiry, although our actual understanding of their contribution to hypospadias risk in humans is currently limited.
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影响因子：
6.1
作者：
Brouwers, MM;Feitz, WFJ;Roeleveld, N
通讯作者：
Roeleveld, N
影响因子：
5.1
作者：
Carmichael, Suzan L.;Ma, Chen;Shaw, Gary M.
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5.6
作者：
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10.4
作者：
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通讯作者：
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