Race and Genetics in Congenital Heart Disease: Application of iPSCs, Omics, and Machine Learning Technologies.
Race and Genetics in Congenital Heart Disease: Application of iPSCs, Omics, and Machine Learning Technologies.
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DOI：
10.3389/fcvm.2021.635280
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发表时间：
2021
影响因子：
3.6
通讯作者：
Wu JC
中科院分区：
文献类型：
--
作者：
Mullen M;Zhang A;Lui GK;Romfh AW;Rhee JW;Wu JC
先天性心脏病（CHD）是一种多面性心血管异常，发生于出生前心脏结构异常。虽然已知各种危险因素会影响这种疾病的发展，但对不同患者群体的病因和治疗方法的全面理解仍然难以捉摸。例如，少数种族受到这种疾病的影响不成比例，通常预后较差，可能是由于环境和遗传差异。尽管对冠心病的研究已经强调了一系列的病因，但在不同患者群体中出现这些差异的原因尚不完全清楚。利用诱导多能干细胞（iPSCs）建立心血管疾病模型是一种研究可能具有种族特异性的冠心病遗传变异的新方法，使其成为帮助解决少数民族较高发病率和死亡率之谜的有价值的工具。在此，我们首先回顾了冠心病的患病率、危险因素和遗传学，然后讨论了利用iPSCs、组学和机器学习技术来研究冠心病的病因及其与种族差异的关系。我们还探索了基于ipsc的疾病建模与基因组编辑和高通量药物筛选平台相结合的转化潜力。
Congenital heart disease (CHD) is a multifaceted cardiovascular anomaly that occurs when there are structural abnormalities in the heart before birth. Although various risk factors are known to influence the development of this disease, a full comprehension of the etiology and treatment for different patient populations remains elusive. For instance, racial minorities are disproportionally affected by this disease and typically have worse prognosis, possibly due to environmental and genetic disparities. Although research into CHD has highlighted a wide range of causal factors, the reasons for these differences seen in different patient populations are not fully known. Cardiovascular disease modeling using induced pluripotent stem cells (iPSCs) is a novel approach for investigating possible genetic variants in CHD that may be race specific, making it a valuable tool to help solve the mystery of higher incidence and mortality rates among minorities. Herein, we first review the prevalence, risk factors, and genetics of CHD and then discuss the use of iPSCs, omics, and machine learning technologies to investigate the etiology of CHD and its connection to racial disparities. We also explore the translational potential of iPSC-based disease modeling combined with genome editing and high throughput drug screening platforms.