卵巢早衰的遗传学研究进展

Genetics research progress of premature ovarian failure

卵巢早衰(POF)是一种临床高度异质且病因复杂的疾病,遗传因素是其重要的发病原因。遗传因素主要包括X染色体、常染色体异常、微小RNA表达异常等。全基因组关联研究(GWAS)、高通量测序(NGS)技术等迅猛发展,可对基因标志物或核苷酸多态性进行统计分析,发现其间的内部联系,揭示新的致病基因,为POF的遗传学基础研究提供崭新的平台。

Premature ovarian failure （POF） is a heterogeneous disease and its etiology is complicated. Genetic factor is the most common cause of POF. The genetic abnormalities of X-chromosome, candidate genes and microRNAs all play important roles in POF pathogenesis. The unbiased approaches of genome-wide associa- tion studies （GWAS） and next-generation sequencing （NGS） technologies have provided a greater insight into POF pathogenesis. In this review, we provide the progress of the genetic basis of POF pathogensis.