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多模式整合基因组数据揭示了多囊卵巢综合征 (PCOS) 相关的12q13.2位置的调控机制

R Alan Harris^1,2, Jan M McAllister³, Jerome F Strauss⁴

¹Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

International journal of molecular sciences

|November 27, 2025

概括

多囊卵巢综合征 (PCOS) 在染色体12q13.2的遗传联系涉及特定的基因变异. 这些变异影响PCOS神经细胞中的雄激素生产和基因表达,揭示了功能机制.

科学领域:

基因组学和内分泌学
生殖医学生殖医学

背景情况:

多囊卵巢综合征 (PCOS) 是生殖年龄妇女普遍存在的内分泌疾病.
以前的研究发现了PCOS在染色体12q13.2的遗传关联,但功能机制仍然难以捉摸.
太卡细胞在雄激素生产中起着至关重要的作用,这是PCOS的标志.

研究的目的:

在12q13.2.2.时功能验证PCOS相关的基因组变异.
研究这些变异对PCOS细胞中基因表达和雄激素产生的影响.
为了阐明在这个位置的PCOS病原体背后的分子机制.

主要方法:

整体外因子测序 (WES) 数据与雄激素生产的功能性测试的整合.
使用STARR-seq和eQTL同位化的增强剂活性分析.
单细胞RNA测序 (scRNA-seq) 用于比较PCOS和正常细胞中的基因表达.
在全基因组测序 (WGS) 队列中对已识别的单元类型进行关联测试.

主要成果:

在RPS26/RAB5B/SUOX中含有10个单核酸变异 (SNV) 的哈普洛类型在12q13.2与雄激素产生和PCOS有关.
增强器变体rs1081975与RPS26/RAB5B/SUOX eQTLs进行同地化.
观察到差异性基因表达:RAB5B显示PCOS神经细胞中的福斯科林反应受损,SUOX表现出相反的反应,PA2G4上调,ERBB3下调.

结论:

多模组基因组数据集成为12q13.2.2.的PCOS相关变异提供了功能验证.
囊泡运输 (RAB5B) 的失调,雄激素受体调节 (PA2G4) 和代谢过程 (SUOX) 都与PCOS神经细胞有关.
这些发现为PCOS病变发生的分子基础提供了洞察力.

关键词:

在STARR-seqq.色素是一种色素.我们的eQTL是eQTL.人类卵巢的theca细胞细胞.这是一个多式联络模式.多囊性卵巢综合征多囊性卵巢综合征一个单细胞RNA测序.整体外基因组测序的测序

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