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经皮症调节了心脏缩的遗传控制

Qianru Wang¹, Tiffany M Tang², Nathan Youlton¹

¹Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, CA, USA.

Research square

|December 4, 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性遗传变异及其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:

遗传学遗传学是一个
心脏病学心脏病学
系统生物学系统生物学

背景情况:

遗传变异的组合效应通常被认为是附加的,但非附加的相互作用 (表观) 是至关重要的,但尚未得到充分研究.
了解表观症对于阐明复杂的遗传结构至关重要,特别是在心血管疾病,如心脏缩.

研究的目的:

开发和应用新的计算方法来识别心脏缩中的表皮性遗传相互作用.
研究非添加性遗传效应在调节左心室质量和心脏结构中的作用.

主要方法:

利用英国生物银行心脏MRI数据 (n=29,661) 来估计左心室质量的深度学习.
采用低信号签名的代随机森林来检测表位遗传变异.
综合功能基因组学,转录基因组网络分析和基于心肌细胞的功能测试.

主要成果:

确定了包括CCDC141,IGF1R,TTN和TNKS在内的基因附近的显著表皮性遗传变异,其中一些被传统GWAS遗漏.
揭示了这些相互作用的基础是一个复杂的基因调节网络,保存在心脏转录组中.
特定基因与基因相互作用 (例如,CCDC141与TTN和IGF1R) 对心肌细胞缩的已证明的因果,非添加效应.

结论:

表观症在心脏缩的遗传结构中起着重要作用.
新的方法可以揭示影响心血管特征的复杂,非添加性遗传相互作用.
这些发现扩大了心脏结构中遗传调节的范围,包括表皮性效应.

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