悉尼Garvan医学研究所、新南威尔士大学基因组与健康研究所及默多克儿童研究所的研究团队分析了2000名澳大利亚人的全基因组，并测量了其中28种免疫细胞的基因活性 1。研究识别出与癌症、阿尔茨海默病等16种疾病相关的1500个基因 1。
该研究深入探究了曾被忽视的DNA串联重复序列（stutters），在超过500万个单个免疫细胞中追踪其效应，发现超过69000个此类重复开关影响免疫系统基因活动 1。此外，研究人员还鉴定了21000个基因和180000个DNA位点作为控制基因表达的“调光开关”（dimmer switch），以及350个额外的疾病特异性过程作为“开/关开关” 1。
这些发现涉及哮喘、克罗恩病、乳腺癌、前列腺癌、高胆固醇和贫血等常见慢性病 1。Garvan医学研究所Joseph Powell教授指出，该研究为开发针对不同患者个体化治疗的新方法提供了“地图” 1。
Research teams based in Sydney have conducted a comprehensive genomic analysis involving 2,000 Australians, recording their complete genomes while measuring gene activity across 28 types of immune cells 1. The study was carried out by institutions including the Garvan Institute of Medical Research, the UNSW Genome and Health Institute, and the Murdoch Children's Research Institute 1. Through this extensive mapping, scientists identified 1,500 genes associated with 16 distinct diseases, such as autoimmune conditions, cancer, Alzheimer’s disease, asthma, Crohn’s disease, breast and prostate cancer, high cholesterol, and anemia 1.
A significant aspect of the research focused on DNA "stutters," or tandem repeats, which were previously often disregarded as genetic junk. By tracking the effects of these sequences in more than 5 million individual immune cells, the team discovered that over 69,000 repeat switches influence gene activity within the immune system 1. Additionally, the researchers identified 21,000 genes and 180,000 DNA sites acting as "dimmer switches" to control gene expression, along with 350 extra disease-specific processes functioning as "on/off switches" 1.
Professor Joseph Powell stated that the findings provide a "map" for developing new methods of personalized treatment tailored to individual patients 1. These results offer foundational data support for creating more accurate targeted drug therapies, highlighting the critical role of DNA "junk" in regulating the immune system 1.
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