Zink Albert, Wann L Samuel, Thompson Randall C, Keller Andreas, Maixner Frank, Allam Adel H, Finch Caleb E, Frohlich Bruno, Kaplan Hillard, Lombardi Guido P, Sutherland M Linda, Sutherland James D, Watson Lucia, Cox Samantha L, Miyamoto Michael I, Narula Jagat, Stewart Alexandre F R, Thomas Gregory S, Krause Johannes
Institute for Mummies and the Iceman, European Academy of Bolzano/Bozen (EURAC), Bolzano/Bozen, Italy.
Cardiovascular Physicians, Columbia St. Mary's Healthcare, Milwaukee, WI, USA.
Glob Heart. 2014 Jun;9(2):203-9. doi: 10.1016/j.gheart.2014.03.2453.
Paleogenetics offers a unique opportunity to study human evolution, population dynamics, and disease evolution in situ. Although histologic and computed x-ray tomographic investigations of ancient mummies have clearly shown that atherosclerosis has been present in humans for more than 5,000 years, limited data are available on the presence of genetic predisposition for cardiovascular disease in ancient human populations. In a previous whole-genome study of the Tyrolean Iceman, a 5,300-year-old glacier mummy from the Alps, an increased risk for coronary heart disease was detected. The Iceman's genome revealed several single nucleotide polymorphisms that are linked with cardiovascular disease in genome-wide association studies. Future genetic studies of ancient humans from various geographic origins and time periods have the potential to provide more insights into the presence and possible changes of genetic risk factors in our ancestors. The study of ancient humans and a better understanding of the interaction between environmental and genetic influences on the development of heart diseases may lead to a more effective prevention and treatment of the most common cause of death in the modern world.
古遗传学提供了一个独特的机会,可在原地研究人类进化、种群动态和疾病演变。尽管对古埃及木乃伊进行的组织学和计算机断层扫描研究清楚地表明,动脉粥样硬化在人类中已经存在了5000多年,但关于古代人类群体中存在心血管疾病遗传易感性的数据却很有限。在之前对来自阿尔卑斯山的一具5300年前的冰川木乃伊——蒂罗尔冰人的全基因组研究中,发现了冠心病风险增加。冰人的基因组揭示了几个在全基因组关联研究中与心血管疾病相关的单核苷酸多态性。未来对来自不同地理起源和时间段的古代人类进行的基因研究,有可能为我们祖先中遗传风险因素的存在及可能的变化提供更多见解。对古代人类的研究以及对环境与遗传因素在心脏病发展过程中相互作用的更好理解,可能会导致对现代世界最常见死因进行更有效的预防和治疗。