Han Seonggyun, Lee Junnam, Kim Sangsoo
School of Systems Biomedical Science, Soongsil University, Seoul 156-743, Korea.
Genomics Inform. 2012 Dec;10(4):234-8. doi: 10.5808/GI.2012.10.4.234. Epub 2012 Dec 31.
Genetic epidemiology studies have established that the natural variation of gene expression profiles is heritable and has genetic bases. A number of proximal and remote DNA variations, known as expression quantitative trait loci (eQTLs), that are associated with the expression phenotypes have been identified, first in Epstein-Barr virus-transformed lymphoblastoid cell lines and later expanded to other cell and tissue types. Integration of the eQTL information and the network analysis of transcription modules may lead to a better understanding of gene expression regulation. As these network modules have relevance to biological or disease pathways, these findings may be useful in predicting disease susceptibility.
遗传流行病学研究已经证实，基因表达谱的自然变异具有遗传性且有遗传基础。人们已经鉴定出一些与表达表型相关的近端和远端DNA变异，即表达数量性状基因座（eQTL），最初是在爱泼斯坦-巴尔病毒转化的淋巴母细胞系中发现的，后来扩展到其他细胞和组织类型。整合eQTL信息和转录模块的网络分析可能有助于更好地理解基因表达调控。由于这些网络模块与生物学或疾病途径相关，这些发现可能有助于预测疾病易感性。
