Understanding Disease Susceptibility through Population Genomics

다국어 초록 (Multilingual Abstract)

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.

참고문헌 (Reference)

1 Dixon AL, "genome-wide association study of global gene expression" 39 : 1202-1207, 2007

2 Fu J, "Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression" 8 : 1002431-, 2012

3 Pickrell JK, "Understanding mechanisms underlying human gene expression variation with RNA sequencing" 464 : 768-772, 2010

4 Yvert G, "Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors" 35 : 57-64, 2003

5 Brem RB, "The landscape of genetic complexity across 5,700 gene expression traits in yeast" 102 : 1572-1577, 2005

6 Nica AC, "The architecture of gene regulatory variation across multiple human tissues: the MuTHER study" 7 : 1002003-, 2011

7 Wikipedia, "Single gene disorder"

8 Stranger BE, "Population genomics of human gene expression" 39 : 1217-1224, 2007

9 Akey JM, "On the design and analysis of gene expression studies in human populations" 39 : 807-808, 2007

10 Cheung VG, "Natural variation in human gene expression assessed in lymphoblastoid cells" 33 : 422-425, 2003

11 Schadt EE, "Mapping the genetic architecture of gene expression in human liver" 6 : 107-, 2008

12 Cookson W, "Mapping complex disease traits with global gene expression" 10 : 184-194, 2009

13 HUGO Pan-Asian SNP Consortium, "Mapping Human Genetic Diversity in Asia" AMER ASSOC ADVANCEMENT SCIENCE 326 (326): 1541-1545, 200912

14 Cubillos FA, "Lessons from eQTL mapping studies: non-coding regions and their role behind natural phenotypic variation in plants" 15 : 192-198, 2012

15 Li H, "Integrative genetic analysis of transcription modules: towards filling the gap between genetic loci and inherited traits" 15 : 481-492, 2006

16 Veyrieras JB, "High-resolution mapping of expression- QTLs yields insight into human gene regulation" 4 : 1000214-, 2008

17 Ge B, "Global patterns of cis variation in human cells revealed by high-density allelic expression analysis" 41 : 1216-1222, 2009

18 Cheung VG, "Genetics of human gene expression: mapping DNA variants that influence gene expression" 10 : 595-604, 2009

19 Emilsson V, "Genetics of gene expression and its effect on disease" 452 : 423-428, 2008

20 Wikipedia, "Genetic disorder"

21 Duan S, "Genetic architecture of transcript-level variation in humans" 82 : 1101-1113, 2008

22 Morley M, "Genetic analysis of genome-wide variation in human gene expression" 430 : 743-747, 2004

23 Gerrits A, "Expression quantitative trait loci are highly sensitive to cellular differentiation state" 5 : 1000692-, 2009

24 Bao L, "Expression QTL modules as functional components underlying higher-order phenotypes" 5 : 14313-, 2010

25 Nayak RR, "Coexpression network based on natural variation in human gene expression reveals gene interactions and functions" 19 : 1953-1962, 2009

26 Ensembl, "Assembly and genebuild"

27 Bao L, "An integrative genomics strategy for systematic characterization of genetic loci modulating phenotypes" 16 : 1381-1390, 2007

28 Natioanl Human Genome Research Institute, "A catalog of published genome-wide association studies"