Liu Shiying, Bush William S, Akinyemi Rufus Olusola, Byrd Goldie S, Caban-Holt Allison Mercedes, Rajabli Farid, Reitz Christiane, Kunkle Brian W, Tosto Giuseppe, Vance Jeffery M, Pericak-Vance Margaret, Haines Jonathan L, Williams Scott M, Crawford Dana C
Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Neuroscience and Ageing Research Unit, Institute for Advanced Medical Research and Training, College of Medicine, University of Ibadan, Ibadan, Oyo, Nigeria.
medRxiv. 2025 Apr 30:2025.04.29.25326648. doi: 10.1101/2025.04.29.25326648.
Estimating heritability has been fundamental in understanding the genetic contributions to complex disorders like late-onset Alzheimer's disease (LOAD), and provides a rationale for identifying genetic factors associated with disease susceptibility. While numerous studies have established substantial genetic contribution for LOAD, the interpretation of heritability estimates remains challenging. These challenges are further complicated by the binary nature of LOAD status, where estimation and interpretation require additional considerations. Through a systematic review, we identified LOAD heritability estimates from 6 twin studies and 17 genome-wide association studies, all conducted in populations of European ancestry. We demonstrate that these heritability estimates for LOAD vary considerably. The variation reflects not only differences in study design and methodological approaches but also the underlying study population characteristics. Our findings indicate that commonly cited heritability estimates, often treated as universal values, should be interpreted within specific population contexts and methodological frameworks.
估计遗传力对于理解像晚发性阿尔茨海默病(LOAD)这样的复杂疾病的遗传贡献至关重要,并为识别与疾病易感性相关的遗传因素提供了理论依据。虽然众多研究已确定LOAD有显著的遗传贡献,但对遗传力估计值的解释仍然具有挑战性。LOAD状态的二元性质使这些挑战更加复杂,在这种情况下,估计和解释需要额外的考虑因素。通过系统综述,我们从6项双胞胎研究和17项全基因组关联研究中确定了LOAD的遗传力估计值,所有这些研究均在欧洲血统人群中进行。我们证明,这些LOAD的遗传力估计值差异很大。这种差异不仅反映了研究设计和方法学方法的不同,还反映了基础研究人群的特征。我们的研究结果表明,通常被视为通用值的常用遗传力估计值,应在特定的人群背景和方法学框架内进行解释。