CAJ | 학술논문

作为常见且复杂的育龄期女性生殖内分泌疾病，多囊卵巢综合征（PCOS）以持续性无排卵、高雄激素血症和（或）卵巢多囊性改变为主要临床特征，而其发病机制至今尚不明晰。 PCOS家庭聚集现象提示其发病的遗传学背景，促进了PCOS相关致病基因的分子流行病学研究。越来越多的PCOS相关基因被发现，但该疾病基因型与表现型存在异质性，且缺乏大样本的研究，目前尚不能明确某一基因与PCOS之间的确切关系。介绍与PCOS发病相关的某些基因（胰岛素相关、雄激素相关、促性腺激素相关、其他卵巢功能相关、脂肪组织相关等）及其最新进展。
작위상견차복잡적육령기녀성생식내분비질병，다낭란소종합정（PCOS）이지속성무배란、고웅격소혈증화（혹）란소다낭성개변위주요림상특정，이기발병궤제지금상불명석。 PCOS가정취집현상제시기발병적유전학배경，촉진료PCOS상관치병기인적분자류행병학연구。월래월다적PCOS상관기인피발현，단해질병기인형여표현형존재이질성，차결핍대양본적연구，목전상불능명학모일기인여PCOS지간적학절관계。개소여PCOS발병상관적모사기인（이도소상관、웅격소상관、촉성선격소상관、기타란소공능상관、지방조직상관등）급기최신진전。
As a common and complex endocrine disorder in women of reproductive age, polycystic ovary syndrome (PCOS) is characterized by chronic anovulation, hyperandrogenaemia and polycystic ovaries. The pathogenesis of PCOS is still unclear. The clinical characteristics of familial aggregation suggest its genetic background, which promoted much molecular epidemiological study on finding candidate genes. Although more and more genes have been found to be related with the etiology of PCOS, there is not a gene which is predicatively related to PCOS pathogenesis at present because of duple heterogeneities of genotype and phenotypy, as well as the lack of large sample research. The article discussed the research progresses on the genetic mechanism of PCOS from several closely related genes, such as those genes related to insulin, androgen, gonadotropin, other ovary functions and adipose tissue.