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Genome-wide association studies of bladder cancer risk: a field synopsis of progress and potential applications.

机译:膀胱癌风险的全基因组关联研究:进展和潜在应用领域概述。

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摘要

The advent of the genome era after the completion of the Human Genome Project has resulted in intensive efforts to identify all genetic variants that modify human health and disease, including cancer. The development of genome-wide association study (GWAS) approach has facilitated this goal by unbiased examination of the entire human genome for disease association. Here, we review some of the GWAS data, particularly for bladder cancer, and assess their significance in risk prediction and prognosis. A mechanistic understanding of the risk association through functional studies and phenotypic assays is also discussed. The ultimate goal is the development of a comprehensive risk prediction model which integrates genetic, environment, and person risk factors to benefit disease diagnosis, prevention, and treatment.
机译:人类基因组计划完成后,基因组时代的到来,促使人们进行了广泛的努力,以鉴定出所有可改变人类健康和疾病(包括癌症)的遗传变异。全基因组关联研究(GWAS)方法的发展通过对整个人类基因组进行疾病关联的公正检查而促进了这一目标。在这里,我们回顾了一些GWAS数据,尤其是膀胱癌的GWAS数据,并评估了它们在风险预测和预后中的意义。还讨论了通过功能研究和表型分析对风险关联的机械理解。最终目标是开发一个综合的风险预测模型,该模型整合了遗传,环境和人员风险因素,从而有利于疾病的诊断,预防和治疗。

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