GWAS作为发现疾病遗传贡献的侦探

S. Bhattacharya, A. Das
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摘要

全基因组关联研究(GWAS)是了解基因变异与疾病表型复杂关联的有力手段。随着GWAS的方法,传统的“一种基因对一种疾病”的信念被带到另一个维度,在这个维度中,疾病发病背后的许多可能的因果因子(多态性)的相当复杂的场景被明确地探索。它还可以自由地监测样本中每个个体的DNA每个点的差异。GWAS以基因组测绘项目为动力,依靠严格的统计分析,在比较从患病人群和未患病人群收集的样本后,检测多态性与疾病表型的关联。然而,这种方法也有其自身的局限性。但是,通过仔细的实验设计和公正的分析,在不久的将来,这种GWAS将成为一种新的边缘技术,可以破译疾病的机制,从而开发出针对特定病例的有效治疗方法。
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GWAS as the Detective to Find Genetic Contribution in Diseases
Genome-wide association study (GWAS) is a powerful method to understand the complex association of variant in gene and disease phenotype. With the approach of GWAS, the traditional “one gene to one disease” belief has been taken to another dimension where a rather complex scenario of many possible causal agent (polymorphisms) behind disease onset is explicitly explored. It also gives the liberty to monitor the difference at each point of DNA for each individual in the sample. GWAS is powered with genome mapping projects and depends on stringent statistical analysis that detects the association of polymorphisms to disease phenotype after comparing the samples collected from afflicted and un-afflicted population. However, this method also has its own limitations. But with careful experiment design and unbiased analysis this GWAS, in near future, will become a new edge technology to decipher the disease mechanism so that effective therapeutics, tailored for specific cases can be developed.
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