Measuring cis-acting regulatory variants genome-wide: new insights into expression genetics and disease susceptibility.
Measuring cis-acting regulatory variants genome-wide: new insights into expression genetics and disease susceptibility.
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DOI：
10.1186/gm116
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发表时间：
2009-12-22
期刊：
影响因子：
12.3
通讯作者：
Sadee W
中科院分区：
文献类型：
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作者：
Sadee W
最近的一项大规模等位基因表达分析表明，顺式作用调节变体可能揭示复杂疾病的一些“缺失的遗传性”成分，这可能导致潜在的治疗和预防突破。调控多态性已经成为表型变异的普遍来源，能够驱动快速进化。mRNA分析与多态性的全基因组基因分型相结合，揭示了对基因表达的普遍遗传影响，以顺式和反式方式发挥作用。测量RNA转录物的等位基因比率使得可以将顺式作用因素与反式作用过程分开关注。Ge及其同事最近的一项研究使用大规模等位基因表达分析，证明了顺式作用调节变体的高发生率，有望深入了解复杂疾病的“缺失遗传性”成分。在这里，我评估他们的结果，并讨论目前的方法和途径探索疾病风险，指导成功的治疗，早期干预和预防的局限性。
A recent large-scale allelic expression analysis shows that cis-acting regulatory variants might reveal some of the 'missing heritability' component of complex disorders, which could lead to potential therapy and prevention breakthroughs. Regulatory polymorphisms have emerged as a prevalent source of phenotypic variability, capable of driving rapid evolution. mRNA profiling combined with genome-wide genotyping of polymorphisms has revealed pervasive genetic influences on gene expression, acting both in cis and in trans. Measuring allelic ratios of RNA transcripts makes it possible to focus on cis-acting factors separately from trans-acting processes. Using large-scale allelic expression analysis, a recent study by Ge and colleagues demonstrates a high incidence of cis-acting regulatory variants, promising insights into the 'missing heritability' component of complex disorders. Here, I evaluate their results and discuss the limitations of the current approach and avenues for exploring disease risk, guiding successful therapy, early intervention, and prevention.