Cardiovascular Genetics Center, Montreal Heart Institute, Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada.
Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.
Nat Genet. 2021 Feb;53(2):128-134. doi: 10.1038/s41588-020-00762-2. Epub 2021 Jan 25.
The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide association studies and multi-trait analyses in HCM (1,733 cases), DCM (5,521 cases) and nine left ventricular (LV) traits (19,260 UK Biobank participants with structurally normal hearts). We identified 16 loci associated with HCM, 13 with DCM and 23 with LV traits. We show strong genetic correlations between LV traits and cardiomyopathies, with opposing effects in HCM and DCM. Two-sample Mendelian randomization supports a causal association linking increased LV contractility with HCM risk. A polygenic risk score explains a significant portion of phenotypic variability in carriers of HCM-causing rare variants. Our findings thus provide evidence that polygenic risk score may account for variability in Mendelian diseases. More broadly, we provide insights into how genetic pathways may lead to distinct disorders through opposing genetic effects.
心肌疾病中的肥厚型心肌病(HCM)和扩张型心肌病(DCM)是导致年轻、健康个体猝死和心力衰竭的主要原因。我们在 HCM(1733 例)、DCM(5521 例)和 9 个左心室(LV)特征(19260 名英国生物库中具有正常结构心脏的参与者)中进行了全基因组关联研究和多特征分析。我们确定了 16 个与 HCM 相关的位点、13 个与 DCM 相关的位点和 23 个与 LV 特征相关的位点。我们表明,LV 特征与心肌病之间存在很强的遗传相关性,在 HCM 和 DCM 中具有相反的作用。两样本 Mendelian 随机化支持增加 LV 收缩力与 HCM 风险之间存在因果关系的假设。多基因风险评分解释了携带导致 HCM 的罕见变异的个体中表型变异的很大一部分。因此,我们的研究结果为多基因风险评分可能解释孟德尔疾病的变异性提供了证据。更广泛地说,我们提供了有关遗传途径如何通过相反的遗传效应导致不同疾病的见解。