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Sept. 17: Jianxin Shi, Ph.D.: Characterizing the Genetic Basis of Methylome Diversity in Histologically Normal Human Lung Tissue
Epigenetic modification such as DNA methylation plays a key role in disease susceptibility and gene regulation. However, the genetic regulation of DNA methylation in human is not fully appreciated. We describe the effects of genetic variants on the DNA methylome in human lung based on methylation-quantitative trait loci (meQTL) analyses. We identified 34,304 cis- and 585 trans-meQTLs, a genetic-epigenetic interaction of surprising magnitude. These findings are replicated in both breast and kidney tissues and show distinct patterns: cis-meQTLs mostly localize to CpG sites outside of genes, promoters and CpG islands (CGIs), while trans-meQTLs are over-represented in promoter CGIs. meQTL SNPs are enriched in CTCF-binding sites, DNaseI hypersensitivity regions and histone marks. Importantly, four of the five established lung cancer risk loci in European ancestry are cis-meQTLs and, in aggregate, cis-meQTLs are enriched for lung cancer risk in a genome-wide analysis of 11,587 subjects. Thus, inherited genetic variation may affect lung carcinogenesis by regulating the human methylome. We also develop a novel statistical algorithm and identified an association hotspot with replication in The Cancer Genome Atlas (TCGA) samples.
Session details...
BIO:
Jianxin Shi received a Ph.D. in Statistics from Stanford University in 2006. He was a postdoctoral research fellow at the Stanford University School of Medicine from 2006 to 2009, working on genetic mapping of psychiatric disorders. Dr. Shi is currently a tenure track investigator in Biostatistics Branch, Division of Cancer Epidemiology and Genetics at the National Cancer Institute. His research focuses on cancer genetics and genomics.
SUMMARY:
Topic: Characterizing the Genetic Basis of Methylome Diversity in Histologically Normal Human Lung Tissue
Speaker: Jianxin Shi, Ph.D.
Date: Wednesday, September 17, 2014
Time: 11 AM – 12 PM EDT
WebEx Meeting Link: https://cbiit.webex.com/cbiit/onstage/g.php?t=a&d=734325295
Password: speakerseries
Meeting ID: 734 325 295
Dial-In for Audio Only: 1-855-244-8681
Presentation: A screen cast of the presentation will be available for viewing after the event on our Speaker Series Videos page and on the NCI CBIIT Speaker Series YouTube Playlist
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About the NCI CBIIT Speaker Series:
The National Cancer Institute (NCI) Cente for Biomedical Informatics and Information Technology (CBIIT) Speaker Series is a bi-weekly knowledge-sharing forum featuring both internal and external speakers on topics of interest to the biomedical informatics and research communities. For additional information, including past speaker series presentations, visit the CBIIT Speaker Series page.
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