The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome.
The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome.
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DOI：
10.1016/j.coemr.2020.02.011
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发表时间：
2020-06-01
影响因子：
--
通讯作者：
Dunaif, Andrea
中科院分区：
文献类型：
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作者：
Dapas, Matthew;Dunaif, Andrea
多囊卵巢综合征（PCOS）是一种高度遗传性疾病，但迄今为止发现的常见遗传风险变异仅占遗传性的一小部分。可能是使用全基因组关联研究阵列无法检测到的具有较低等位基因频率的变异导致了PCOS。在这里，我们讨论了研究复杂疾病中罕见遗传变异所固有的挑战，并回顾了最近几项使用DNA测序技术研究罕见变异是否在PCOS发病机制中发挥作用的研究。我们在PCOS和复杂疾病遗传学的最新文献的背景下评估这些发现。
Polycystic ovary syndrome (PCOS) is a highly heritable disorder, but only a small proportion of the heritability can be accounted for by common genetic risk variants identified to date. It is possible that variants with lower allele frequencies that cannot be detected using genome-wide association study arrays contribute to PCOS. Here, we discuss the challenges inherent to studying rare genetic variants in complex disease and review several recent studies that have used DNA sequencing techniques to investigate whether rare variants play a role in PCOS pathogenesis. We evaluate these findings in the context of the latest literature in PCOS and complex disease genetics.