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全基因组关联分析(GWAS)提供了一种强有力的方法以鉴定常见的、低外显率的疾病敏感位点,在事先不知其表型及功能的情况下。在过去的5年里,已经有超过700例GWAS成功地实施并发表,其中有3例与妇科肿瘤有关。在GWAS检测出的敏感基因中,大多数从未被认为与癌症发生有关,这也为癌症的发病机理研究指明了新的方向。随着技术的进步,GWAS不仅用于风险预测,也逐渐用于预后研究以及药物治疗。本文介绍了GWAS的技术背景及研究进展,并结合其在妇科肿瘤方面的相关发现进行阐述。
Genome-wide Association Analysis (GWAS) provides a powerful way to identify common, low-penetrance disease-sensitive loci without knowing their phenotype and function in advance. In the past 5 years, more than 700 cases of GWAS have been successfully implemented and published, of which 3 cases are related to gynecologic oncology. Most of the sensitive genes detected by GWAS are never considered to be related to the occurrence of cancer, which indicates a new direction for the study of the pathogenesis of cancer. As technology advances, GWAS is used not only for risk prediction but also for prognostic studies and drug treatments. This article describes the GWAS technical background and research progress, combined with its findings in gynecologic oncology.