考虑反式eSNP效应的全基因组关联分析新视角

Junho Kim, Doheon Lee
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引用次数: 1

摘要

通过全基因组关联分析发现的大多数位点都预测会影响基因表达,全基因组分析与基因表达数据的整合方法正在成为发现疾病发展遗传效应的必要手段。许多研究已经发现了显著的snp基因关联,但大多数研究仅限于考虑顺式关联,而忽略了跨域关联。在这项研究中,我们探讨了跨esnp关联的影响,这可能是基因表达变化的基础。通过考虑整个snp基因关联的全基因组关联分析,我们发现了许多与基因表达显著相关的反式关联,在数量和意义上甚至超过了顺式关联。我们的研究结果揭示了从全基因组关联分析中重新考虑跨关联效应的必要性,并为发现未被发现的遗传因果关系提供了新的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A new perspective of integrative genome-wide association analysis considering trans eSNP effect
Most loci discovered through genome-wide association analyses are predicted to affect gene expression, the integrative approach of genome-wide analysis with gene expression data is becoming essential procedure for discovering genetic effect of disease development. Many studies have been performed to discover significant SNP-gene associations, but most of them are limited to consider only cis-associations and neglect trans-territory. In this study, we explored the effect of trans-eSNP associations that may underlie the alternation of gene expressions. Through the integrative genome-wide association analysis considering the entire SNP-gene associations, we identified numerous trans associations which are significantly associated with gene expression, even more than cis associations in quantity and significance. Our findings revealed the necessity of reconsidering trans-association effect from integrative genome-wide association analysis and provided novel insights to find undiscovered genetic causalities.
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