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基因组医学在糖尿病管理中的核心地位。

Genomic medicine at the heart of diabetes management.

机构信息

Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Oxford, OX3 7LJ, UK,

出版信息

Diabetologia. 2015 Aug;58(8):1725-9. doi: 10.1007/s00125-015-3588-6. Epub 2015 Apr 10.

Abstract

Individual predisposition to type 2 diabetes is influenced by the combined effect of a constellation of genetic variants and a multitude of environmental exposures. Identification of the specific genetic variants involved, and the mechanisms through which they operate, provides a powerful approach for delivering biological insights that can drive translational benefit, one that is already widely exploited in the personalised management of monogenic and syndromic forms of diabetes. This commentary develops the argument that equivalent translational advances for more common forms of diabetes are unlikely to result solely from the ability to define more complete individual inventories of genetic risk and environmental exposure. They will also require identification of complex molecular signatures able to provide integrative, empirical, longitudinal readouts of disease progression. These signatures will track causal mechanisms and capture an individual's position within a complex spectrum of pathophysiological processes, thereby supporting personalised approaches to intervention and treatment. This is one of a series of commentaries under the banner '50 years forward', giving personal opinions on future perspectives in diabetes, to celebrate the 50th anniversary of Diabetologia (1965-2015).

摘要

个体易患 2 型糖尿病的倾向受一系列遗传变异和多种环境暴露的综合影响。确定所涉及的特定遗传变异及其作用机制,为提供生物学见解提供了一种强大的方法,这些见解可以推动转化效益,这在单基因和综合征形式的糖尿病的个性化管理中已经得到广泛应用。本评论提出了这样一种观点,即对于更为常见的糖尿病形式,仅通过定义更完整的个体遗传风险和环境暴露清单,不太可能实现同等的转化进展。还需要确定能够提供疾病进展综合、经验性、纵向读数的复杂分子特征。这些特征将跟踪因果机制,并捕获个体在复杂的病理生理过程谱中的位置,从而支持针对干预和治疗的个性化方法。这是一系列以“50 年展望”为主题的评论之一,对糖尿病的未来展望提出个人意见,以庆祝《糖尿病学》创刊 50 周年(1965-2015 年)。

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