University of Edinburgh, Clinical and Surgical Sciences (Surgery), Royal Infirmary, Edinburgh, UK.
Curr Opin Support Palliat Care. 2010 Dec;4(4):243-8. doi: 10.1097/SPC.0b013e32833e4a5d.
Cachexia is a progressive deterioration of body habitus associated with chronic diseases. The finding that only a proportion of patients with chronic disease develop cachexia has prompted studies looking for genetic polymorphisms that may underlie differential susceptibility. The aim of this review is to explore how inflammation and gene polymorphisms influence susceptibility to cachexia.
There has been evidence that certain cytokine gene polymorphisms are associated with cachexia. However, only the IL10 -1082 G allele, which is associated with an increased risk of developing cachexia has been replicated in more than one study. Variation in genes outwith inflammation pathways (e.g. genes involved in protein metabolism) is also likely to contribute the susceptibility of developing cachexia. The insertion/deletion angiotensin converting enzyme (ACE) gene polymorphism has recently been linked with lower lean body mass in cancer patients with cachexia.
Although there is an increasing body of evidence of genetic susceptibility to cachexia, most studies so far have only focussed on a small number of polymorphisms and have small sample sizes. Large-scale candidate gene studies or genome-wide association studies are required to further elucidate the link between genotype and cachexia.
恶病质是一种与慢性疾病相关的身体形态进行性恶化。只有一部分患有慢性疾病的患者会出现恶病质，这一发现促使人们研究可能导致易感性差异的遗传多态性。本综述的目的是探讨炎症和基因多态性如何影响恶病质易感性。
有证据表明某些细胞因子基因多态性与恶病质有关。然而，只有 IL10-1082G 等位基因，与恶病质的发展风险增加相关，在超过一项研究中得到了复制。炎症途径以外的基因（例如参与蛋白质代谢的基因）的变异也可能导致恶病质易感性的增加。血管紧张素转换酶（ACE）基因插入/缺失多态性最近与患有恶病质的癌症患者的瘦体重降低有关。
尽管有越来越多的证据表明恶病质存在遗传易感性，但迄今为止，大多数研究仅集中在少数几种多态性上，且样本量较小。需要进行大规模的候选基因研究或全基因组关联研究，以进一步阐明基因型与恶病质之间的关系。
