Bilgin Ekrem M, Kovanci Ertug
Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.
Curr Opin Obstet Gynecol. 2015 Jun;27(3):167-74. doi: 10.1097/GCO.0000000000000177.
To provide an overview on the genetic basis of premature ovarian failure (POF) with specific attention to recently published molecular genetic studies.
POF is an insidious cause of female infertility. Despite enormous efforts to understand the genetic pathogenesis, we know almost nothing but Turner syndrome and Fragile X syndrome. The era of genome-wide association studies opened a new window into the understanding of the complex, polygenic nature of ovarian failure by identifying several candidate regions. Most of the genes in these regions are waiting for confirmation in isolated POF cohorts. Recently, molecular evidence on the regulatory role of small noncoding RNAs in folliculogenesis and oocyte development began to emerge. The association between certain microRNA polymorphisms and POF has been reported.
Although there exist numerous candidate genes in the literature, a few of them have comprehensive and consistent molecular workup that showed strong genotype/phenotype association.
概述卵巢早衰（POF）的遗传基础，特别关注最近发表的分子遗传学研究。
POF是女性不孕的一个隐匿原因。尽管为了解其遗传发病机制付出了巨大努力，但除了特纳综合征和脆性X综合征外，我们几乎一无所知。全基因组关联研究时代通过识别几个候选区域，为理解卵巢早衰复杂的多基因本质打开了一扇新窗口。这些区域中的大多数基因有待在孤立的POF队列中得到证实。最近，关于小非编码RNA在卵泡发生和卵母细胞发育中的调节作用的分子证据开始出现。已经报道了某些微小RNA多态性与POF之间的关联。
尽管文献中有众多候选基因，但其中只有少数经过了全面且一致的分子检查，显示出强基因型/表型关联。
