与卵巢储备功能减退的遗传关联：文献系统综述
Genetic associations with diminished ovarian reserve: a systematic review of the literature.
作者信息
Greene Alexis D, Patounakis George, Segars James H
机构信息
Obstetrics & Gynecology Department, St Luke's Roosevelt Hospital Center, 1000 Tenth Ave, Suite 10 C, New York, NY, 10019, USA.
出版信息
J Assist Reprod Genet. 2014 Aug;31(8):935-46. doi: 10.1007/s10815-014-0257-5. Epub 2014 May 20.
PURPOSE
Diminished ovarian reserve (DOR) affects 10 % of women seeking fertility treatment. Although it is much more prevalent than premature ovarian failure, less is known about its etiology. The purpose of this article is to review the possible genetic causes of, and associations with, pathologic DOR.
METHODS
A systematic review was conducted using PubMed from 1966 through November 2013.
RESULTS
Twenty-one articles identified genes associated with DOR: one gene mutation (FMR1), three polymorphisms (GDF9, FSHR, and ESR1), and seven genes differentially expressed between women with DOR and controls (AMH, LHCGR, IGF1, IGF2, IGF1R, IGF2R and GREM1). Six candidate genes were discovered in mice, including Foxl2, Gdf9, Bmp15, Aire, Wnt4, and Gpr3. Two case reports of chromosomal translocations were also identified.
CONCLUSIONS
While the etiology of pathologic DOR is likely multifactorial, it is possible that many cases attributed to an idiopathic cause may have a genetic component. Larger studies are needed to expose the impact gene mutations, polymorphisms, and epigenetics have on pathologic DOR.
目的
卵巢储备功能减退（DOR）影响10%寻求生育治疗的女性。尽管其比卵巢早衰更为常见，但其病因却鲜为人知。本文旨在综述病理性DOR可能的遗传原因及其关联。
方法
使用PubMed对1966年至2013年11月期间的文献进行系统综述。
结果
21篇文章确定了与DOR相关的基因：一个基因突变（FMR1）、三个多态性位点（GDF9、FSHR和ESR1），以及在DOR女性与对照组之间差异表达的七个基因（AMH、LHCGR、IGF1、IGF2、IGF1R、IGF2R和GREM1）。在小鼠中发现了六个候选基因，包括Foxl2、Gdf9、Bmp15、Aire、Wnt4和Gpr3。还确定了两例染色体易位的病例报告。
结论
虽然病理性DOR的病因可能是多因素的，但许多归因于特发性原因的病例可能具有遗传成分。需要更大规模的研究来揭示基因突变、多态性和表观遗传学对病理性DOR的影响。
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