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经皮病调节了心脏缩的遗传控制

Qianru Wang, Tiffany M Tang, Nathan Youlton

medRxiv : the preprint server for health sciences

|November 21, 2023

概括

遗传相互作用,或表观症,显著影响心脏缩. 这项研究确定了新的表皮病变体,并揭示了它们对心脏结构的非添加效应,扩大了我们对遗传调节的理解.

科学领域:

遗传学遗传学是一种遗传学.
心脏病学心脏病学
系统生物学系统生物学

背景情况:

遗传变异相互作用通常被认为是附加的.
检测非添加性遗传相互作用 (epistasis) 的方法尚不发达.
心脏缩具有复杂的遗传结构,并不能完全通过添加模型来解释.

研究的目的:

开发和应用新的方法来识别心脏缩中的表皮性遗传效应.
为了阐明底层左心室质量的复杂遗传结构.
调查已识别的表皮性相互作用的功能后果.

主要方法:

利用深度学习来估计来自英国生物银行心脏MRI数据的左心室质量 (n=29,661).
采用低信号签名的代随机森林来检测表位遗传变异.
进行了功能性基因组学,整合性丰富,转录组网络和RNA沉默分析.

主要成果:

确定了近基因的表皮性遗传变异,包括CCDC141,IGF1R,TTN和TNKS,其中一些被单变异分析遗漏.
揭示了一个复杂的基因调节网络,并在失败的心脏中改变了基因共同表达.
通过对对相互作用 (例如,CCDC141与TTN和IGF1R) 证明了心肌细胞缩的非添加性修饰.

结论:

表皮病在心脏结构和缩的遗传调节中起着重要作用.
新型的表皮位置会导致心脏缩,突出显示了附加遗传模型的局限性.
这些发现扩大了对心血管疾病遗传调节的理解.

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