关键词: monogenic oligogenic polygenic rare variant type 2 diabetes

来  源:   DOI:10.1016/j.tem.2024.06.006

Abstract:
The demarcation between monogenic and polygenic type 2 diabetes (T2D) is less distinct than previously believed. Notably, recent research has highlighted a new entity, that we suggest calling oligogenic forms of T2D, serving as a genetic link between these two forms. In this opinion article, we have reviewed scientific advances that suggest categorizing genes involved in oligogenic T2D. Research focused on polygenic T2D has faced challenges in deepening our comprehension of the pathophysiology of T2D due to the inability to directly establish causal links between a signal and the molecular mechanisms underlying the disease. However, the study of oligogenic forms of T2D has illuminated distinct causal connections between genes and disease risk, thereby indicating potential new drug targets.
摘要:
单基因和多基因2型糖尿病(T2D)之间的分界不如以前认为的那么明显。值得注意的是,最近的研究强调了一个新的实体,我们建议称T2D的寡基因形式,作为这两种形式之间的遗传联系。在这篇观点文章中,我们回顾了科学进展,这些进展建议对涉及寡基因T2D的基因进行分类.由于无法直接建立信号与疾病背后的分子机制之间的因果关系,专注于多基因T2D的研究在加深我们对T2D病理生理学的理解方面面临挑战。然而,对T2D的寡基因形式的研究揭示了基因与疾病风险之间的明显因果关系,从而表明潜在的新药靶点。
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