It is well understood that poor diet and lifestyle choices can increase the risk of cancer. It is also well documented that cancer is a disease of DNA mutations, with mutations in key genes driving carcinogenesis. Measuring these mutations in a minimally invasive way may be informative as to which exposures are harmful and thus allow us to introduce primary preventative measures, in a bid to reduce cancer incidences. Here, we have measured mutations in the phosphatidylinositol glycan class A (PIG-A) gene in erythrocytes from healthy volunteers (n = 156) and from non-cancer patients attending the local endoscopy department (n = 144). The X-linked PIG-A gene encodes an enzyme involved in glycosylphosphatidylinositol (GPI) anchor synthesis. A silencing mutation in which leads to the absence of GPI anchors on the extracellular surface which can be rapidly assessed using flow cytometry. The background level of PIG-A mutant erythrocytes was 2.95 (95% CI: 2.59-3.67) mutant cells (10-6). Older age increased mutant cell frequency (P < 0.001). There was no difference in mutant cell levels between males and females (P = 0.463) or smokers and non-smokers (P = 0.186). In the endoscopy group, aspirin users had lower mutant frequencies (P = 0.001). Further information on diet and exercise was available for the endoscopy patient group alone, where those with a higher health promotion index score had lower mutant frequencies (P = 0.011). Higher dietary intake of vegetables reduced mutant cell levels (P = 0.022). Participants who exercised for at least 1 h a week appeared to have reduced mutant frequencies than those who did not exercise, although this was not statistically significant (P = 0.099). This low background level of mutant erythrocytes in a population makes this assay an attractive tool to monitor exposures such as those associated with lifestyles and diet, as demonstrated here.

中文翻译：

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饮食和生活方式因素影响人类红细胞 PIG-A 突变频率。

众所周知，不良的饮食和生活方式选择会增加患癌症的风险。也有充分的证据表明，癌症是一种 DNA 突变疾病，关键基因的突变驱动了致癌作用。以微创方式测量这些突变可能会提供有关哪些暴露有害的信息，从而使我们能够引入初级预防措施，以降低癌症发病率。在这里，我们测量了来自健康志愿者 (n = 156) 和就诊于当地内窥镜科的非癌症患者 (n = 144) 的红细胞中磷脂酰肌醇聚糖 A 类 (PIG-A) 基因的突变。X-连锁的 PIG-A 基因编码一种参与糖基磷脂酰肌醇 (GPI) 锚合成的酶。一种沉默突变，导致细胞外表面缺乏 GPI 锚，可以使用流式细胞术快速评估。PIG-A 突变红细胞的背景水平为 2.95 (95% CI: 2.59-3.67) 突变细胞 (10-6)。年龄较大的突变细胞频率增加（P < 0.001）。男性和女性（P = 0.463）或吸烟者和非吸烟者（P = 0.186）之间的突变细胞水平没有差异。在内窥镜组中，阿司匹林使用者的突变频率较低（P = 0.001）。仅内窥镜检查患者组可获得有关饮食和运动的更多信息，其中健康促进指数得分较高的患者突变频率较低（P = 0.011）。较高的蔬菜膳食摄入量降低了突变细胞水平（P = 0.022）。锻炼至少 1 公顷的参与者似乎比不锻炼的参与者减少了突变频率，尽管这没有统计学意义 (P = 0.099)。人群中突变红细胞的这种低背景水平使该测定成为监测暴露的有吸引力的工具，例如与生活方式和饮食相关的暴露，如此处所示。