多囊卵巢综合征的遗传学研究
Genetic Studies on Polycystic Ovary Syndrome.
作者信息
Zhao Han, Lv Yue, Li Lei, Chen Zi-Jiang
机构信息
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China.
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
出版信息
Best Pract Res Clin Obstet Gynaecol. 2016 Nov;37:56-65. doi: 10.1016/j.bpobgyn.2016.04.002. Epub 2016 May 19.
Polycystic ovary syndrome (PCOS) is a highly heterogeneous reproductive system disorder of which the aetiology is not fully understood. Previous association studies have been conducted on >100 candidate genes, which principally related to reproductive hormones, cellular metabolism and chronic inflammation. Heritable tendencies have long been recognized for pathogeneses of PCOS, and recently a genome-wide association study (GWAS) in PCOS provides new clues to understand the genetic components and pathways in PCOS physiology. However, the current knowledge of the pathogenesis of PCOS is still in its infancy. Further studies using new technologies such as next-generation sequencing (NGS) shall be useful to understand more causal variants for PCOS.
多囊卵巢综合征（PCOS）是一种高度异质性的生殖系统疾病，其病因尚未完全明确。此前针对100多个候选基因开展了关联研究，这些基因主要与生殖激素、细胞代谢和慢性炎症相关。长期以来，人们已认识到PCOS发病机制中存在遗传倾向，最近一项针对PCOS的全基因组关联研究（GWAS）为理解PCOS生理学中的遗传成分和途径提供了新线索。然而，目前对PCOS发病机制的认识仍处于起步阶段。使用新一代测序（NGS）等新技术进行进一步研究，将有助于了解更多PCOS的致病变异。
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