Sequence polymorphisms cause many false cis eQTLs.
Sequence polymorphisms cause many false cis eQTLs.
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DOI：
10.1371/journal.pone.0000622
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发表时间：
2007-07-18
期刊：
影响因子：
3.7
通讯作者：
Jansen, Ritsert C.
中科院分区：
文献类型：
--
作者：
Alberts, Rudi;Terpstra, Peter;Li, Yang;Breitling, Rainer;Nap, Jan-Peter;Jansen, Ritsert C.
许多研究报告了针对基因表达表型（EQTL）的定量性状局部（QTL）的成功映射，其中表达表型映射到基因本身，这是特别感兴趣的在这里，我们表明遗传基因组学实验中的许多局部eqtl并不反映由序列多态性引起的实际表达差异顺式作用因素改变了mRNA水平，它们表明由MRNA区域中的序列多态性引起的杂交差异，这些差异是由微阵列问题的目标。将这种方法应用于最近的小鼠和人类EQTL数据，我们证明确实，许多局部eqtl被错误地报告为“顺式作用”或“顺式”，可以通过这种方法成功检测和消除。
Many investigations have reported the successful mapping of quantitative trait loci (QTLs) for gene expression phenotypes (eQTLs). Local eQTLs, where expression phenotypes map to the genes themselves, are of especially great interest, because they are direct candidates for previously mapped physiological QTLs. Here we show that many mapped local eQTLs in genetical genomics experiments do not reflect actual expression differences caused by sequence polymorphisms in cis-acting factors changing mRNA levels. Instead they indicate hybridization differences caused by sequence polymorphisms in the mRNA region that is targeted by the microarray probes. Many such polymorphisms can be detected by a sensitive and novel statistical approach that takes the individual probe signals into account. Applying this approach to recent mouse and human eQTL data, we demonstrate that indeed many local eQTLs are falsely reported as “cis-acting” or “cis” and can be successfully detected and eliminated with this approach.
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DOI：
10.1073/pnas.011404098
发表时间：
2001-01-02
影响因子：
11.1
作者：
Li, C;Wong, WH
通讯作者：
Wong, WH
影响因子：
30.8
作者：
Bystrykh, L;Weersing, E;de Haan, G
通讯作者：
de Haan, G
影响因子：
2.5
作者：
Peirce, Jeremy L.;Li, Hongqiang;Lu, Lu
通讯作者：
Lu, Lu
影响因子：
7
作者：
Gilad, Y;Rifkin, SA;White, KP
通讯作者：
White, KP
影响因子：
2.1
作者：
Irizarry, RA;Hobbs, B;Speed, TP
通讯作者：
Speed, TP