Swerdlow Daniel I
Department of Medicine, Imperial College London, London, UK.
Cardiovasc Drugs Ther. 2016 Feb;30(1):51-7. doi: 10.1007/s10557-016-6638-5.
Type 2 diabetes (T2DM) is a common, complex disease that poses a substantial burden on individual and population health, but we have relatively limited understanding of its underlying pathophysiology. Observational studies have highlighted large numbers of risk factors for T2DM, some of which are modifiable through behavioural or pharmacological intervention. Determining which of these risk factors plays a causal role in the development of T2DM has been a challenge, but Mendelian randomisation (MR) studies are harnessing genetic data in population studies to offer new insights. Using evolving analytical methods, MR studies continue to address questions of causality related to T2DM, including exploring the roles of adiposity, blood lipids and inflammation. The causal roles of a number of important modifiable risk factors have been confirmed by MR studies, while the relevance of others has been called into question. As more MR studies are conducted, methods are developed and refined in order to make the most efficient and reliable use of available genetic and phenotypic data. In this review, the design and findings of some important MR studies related to T2DM are explored and their relevance for translation to clinical practice considered.
2型糖尿病（T2DM）是一种常见的复杂疾病，给个人和人群健康带来了沉重负担，但我们对其潜在病理生理学的了解相对有限。观察性研究突出了大量T2DM的风险因素，其中一些可通过行为或药物干预加以改变。确定这些风险因素中哪些在T2DM的发生发展中起因果作用一直是一项挑战，但孟德尔随机化（MR）研究正在利用人群研究中的遗传数据来提供新的见解。通过不断发展的分析方法，MR研究继续解决与T2DM相关的因果关系问题，包括探究肥胖、血脂和炎症的作用。一些重要的可改变风险因素的因果作用已得到MR研究的证实，而其他因素的相关性则受到质疑。随着更多MR研究的开展，方法不断得到开发和完善，以便最有效地、可靠地利用现有的遗传和表型数据。在本综述中，探讨了一些与T2DM相关的重要MR研究的设计和结果，并考虑了它们对转化为临床实践的相关性。
