How frequent is altered gene expression among susceptibility genes to human complex disorders

摘要: Philippe H. Jais, MD, PhD It is regularly thought that human complex disorder susceptibility genes show differences in gene expression between normal and pathologic tissues. Thus, of transcript amounts could be indicative loci and, therefore, used for the discovery or validation to disorders/traits. Whether effectively display was tested by meta-analysis published literature comparing well-validated traits/disorders. A total 94 gene-disease associations, which were studied at least three independent studies showed strong evidence positive association, analyzed. For 23 out these 120 tissues found. 60 studies, difference level statistically significant. This result highly significant, as only 6 significant results expected randomly under null hypothesis (P 10 112 ). large excess replication also found, agreement with original report 610 4 However, overall change relatively moderate, because 36 (60%) 19 (31.6%) 62 reached 2- 3-fold changes level, respectively. The present confirms statistical levels appear weak. These findings rationalize use discovery/validation genes, but weak typically found should taken into account design such