12. GWASの実績
• 数百件の表現型に関連するSNPsの同定で1300件以上の報告
•
Digestive system disease/Cardiovascular disease/Metabolic
disease/Immune system disease/Nervous system disease/
Response to drug …
http://www.genome.gov/multimedia/illustrations/
Published_GWA_Reports_6-2012.pdf
Published Genome-‐Wide Associations through 12/2012
-‐8 for 17 trait categories
P
NHGRI GWA Catalog
www.genome.gov/GWAStudies
www.ebi.ac.uk/fgpt/gwas/
24. [2] Systematic comparison of phenome-wide
association study of electronic medical record data and
genome-wide association study data. Fig. 1
PheWASの実績
既知関連
[1]
[2]
P値
4/7 2.8×10-6
0.011
51/77
未知関連
P値
19 < 0.01
63 < 4.6×10-6
[1] PheWAS: demonstrating the feasibility of a phenome-wide scan to
discover gene-disease associations Fig. 1
29. 参考⽂文献
PheWAS: demonstrating the feasibility of a phenome-wide scan to
discover gene-disease associations, Denny JC et. al,
Bioinformatics. 2010 May 1;26(9):1205-10. doi: 10.1093/
bioinformatics/btq126. Epub 2010 Mar 24.
The Use of Phenome-Wide Association Studies (PheWAS) for
Exploration of Novel Genotype-Phenotype Relationships and
Pleiotropy Discovery, Pendergrass SA et. al, Genet Epidemiol. 2011
Jul;35(5):410-22. doi: 10.1002/gepi.20589. Epub 2011 May 18.
Visually integrating and exploring high throughput Phenome-Wide
Association Study (PheWAS) results using PheWAS-View,
Pendergrass SA et. al, BioData Min. 2012 Jun 8;5(1):5. doi:
10.1186/1756-0381-5-5.
A PheWAS approach in studying HLA-DRB1*1501,Hebbring SJ e. al,
Genes Immun. 2013 Apr;14(3):187-91. doi: 10.1038/gene.2013.2.
Epub 2013 Feb 7
30. 参考⽂文献
Genome- and Phenome-Wide Analyses of Cardiac Conduction
Identifies Markers of Arrhythmia Risk, D. Ritchie et. al, Circulation.
2013 Apr 2;127(13):1377-85. doi: 10.1161/CIRCULATIONAHA.
112.000604. Epub 2013 Mar 5.
Variants near FOXE1 are associated with hypothyroidism and other
thyroid conditions: using electronic medical records for genomeand phenome-wide studies, Denny JC et. al, Am J Hum Genet.
2011 Oct 7;89(4):529-42. doi: 10.1016/j.ajhg.2011.09.008
Systematic comparison of phenome-wide association study of
electronic medical record data and genome-wide association study
data, Joshua C Denny, Nature Biotechnology 31, 1102–1111
(1 December 2013) | doi:10.1038/nbt.2749
Trends in computational biology—2010, Mak HC, Nat Biotechnol.
2011 Jan;29(1):45-9. doi: 10.1038/nbt0111-45b
31. 参考⽂文献
アブストラクト・ジャーナル,2013年12⽉月6⽇日投稿
Linking Genes to Diseases by Sifting Through Electronic Medical
Records, NYT, 2013年11⽉月28⽇日
ゲノムワイド関連解析を通じた疾患感受性遺伝⼦子の同定, 岡⽥田随象, 2012
年10⽉月26⽇日
PheWAS - phenome-wide association studies, Vanderbilt University,
Biomedical language Processing Lab HP内
A Catalog of Published Genome-Wide Association Studies, NIH,
Division of Genomic Medicine HP内
NICHD Vision Workshop Regenerative Medicine and Regeneration,
Kristin Baldwin