有关PCOS遗传变异的积极选择的证据
Zhiheng Yu1,2,3,4,5, Yi Li6, Shigang Zhao1,2,3,4,5
1Hospital for Reproductive Medicine, Shandong University, Jinan, China.
Human reproduction (Oxford, England)
|November 20, 2023
概括
多囊卵巢综合征 (PCOS) 遗传变异显示出积极进化选择的证据,解释了其高患病率. 这表明PCOS并没有迅速减少,而是从祖先开始受到青.
科学领域:
- 进化生物学是进化的生物学.
- 人类遗传学 人类遗传学
- 内分泌学 在内分泌学.
背景情况:
- 多囊卵巢综合征 (PCOS) 是一种常见的,遗传性内分泌疾病,导致生殖和代谢问题.
- 虽然PCOS会影响生育能力,但矛盾的是,在全球范围内仍然非常普遍.
- 有限的研究已经探索了PCOS相关遗传变异的进化选择.
研究的目的:
- 为了调查与PCOS相关的遗传变异是否在人类进化过程中经历了积极选择.
- 测试积极选择可能解释目前PCOS高患病率的假设.
主要方法:
- 来自1000个基因组项目的14个种群的2,504个个体的进化分析.
- 使用六个进化参数测试了37个PCOS相关的单核酸多态 (SNPs) 对积极选择的特征.
- 分析的SNP位于五个关键基因内或附近:DENND1A,AOPEP,THADA,DGKI和UNC5C.
主要成果:
- 在PCOS相关的SNP位点检测到积极选择的显著证据,特别是在人类祖先的进化窗口内.
- 在37个测试的SNP中,有6个,特别是DENND1A,AOPEP和THADA附近的SNP,显示出显著的阳性选择.
- 这些发现表明,导致PCOS的遗传变异可能在祖先群体中具有优势.
结论:
- 这项研究提供了令人信服的证据,支持PCOS的积极演变.
- 与PCOS相关的遗传变异,特别是DENND1A,AOPEP和THADA,似乎已经被积极选择.
- 建议使用更大的数据集和额外的进化指标进行进一步的研究,以确认这些发现并阐明基因功能.
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