Gueorguiev Maria, Korbonits Márta
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK.
Endocr Dev. 2013;25:25-40. doi: 10.1159/000348665. Epub 2013 Apr 25.
Ghrelin was originally identified as a growth hormone secretagogue, but later studies suggested that it plays an important role in the regulation of appetite and body weight. The implication of genetic variants of the ghrelin-ghrelin receptor axis in the determination of stature, appetite, body weight, glucose metabolism and eating disorders has been the focus of numerous small and larger studies. More recently, several studies have shown some involvement of ghrelin and growth hormone secretagogue receptor (GHSR) genetic variants in some cancers, or their role in the genetics of immune diseases or addictive behaviour. The overall results suggest that the effects of common genetic variants are lacking or modest, while rare sequence alteration may lead to disease status in individual patients. In this review we summarize the available data on the genetics of ghrelin axis in humans.
胃饥饿素最初被鉴定为一种生长激素促分泌素，但后来的研究表明，它在食欲和体重调节中起重要作用。胃饥饿素-胃饥饿素受体轴的基因变异在身高、食欲、体重、葡萄糖代谢和饮食失调的决定中的意义一直是众多大小研究的焦点。最近，几项研究表明，胃饥饿素和生长激素促分泌素受体（GHSR）基因变异在某些癌症中有所涉及，或者它们在免疫疾病或成瘾行为的遗传学中发挥作用。总体结果表明，常见基因变异的影响缺乏或较小，而罕见的序列改变可能导致个别患者出现疾病状态。在这篇综述中，我们总结了关于人类胃饥饿素轴遗传学的现有数据。
