Enrichment of Cis-Regulatory Gene Expression SNPs and Methylation Quantitative Trait Loci Among Bipolar Disorder Susceptibility Variants

@inproceedings{Gamazon2013EnrichmentOC,
  title={Enrichment of Cis-Regulatory Gene Expression SNPs and Methylation Quantitative Trait Loci Among Bipolar Disorder Susceptibility Variants},
  author={ER Gamazon and JA Badner and Li Cheng and Chenwei Zhang and Dan-Dan Zhang and N Cox and Elliot S. Gershon and J Kelsoe and T A Greenwood and Caroline M. Nievergelt and C J Chen and Rebecca Mckinney and PD Shilling and N Schork and EN Smith and C S Bloss and John I. Nurnberger and H J Edenberg and Tatiana Foroud and D. Koller and William Scheftner and William H. Coryell and John P. Rice and W. Lawson and EA Nwulia and M Hipolito and William Byerley and FJ McMahon and TG Schulze and W Berrettini and J B Potash and PP Zandi and PB Mahon and M. G. McInnis and Sebastian Z{\"o}llner and Peng Zhang and D Craig and Szabolcs Szelinger and TB Barrett and Chang Liu},
  booktitle={Molecular Psychiatry},
  year={2013}
}
We conducted a systematic study of top susceptibility variants from a genome-wide association (GWA) study of bipolar disorder to gain insight into the functional consequences of genetic variation influencing disease risk. We report here the results of experiments to explore the effects of these susceptibility variants on DNA methylation and mRNA expression in human cerebellum samples. Among the top susceptibility variants, we identified an enrichment of cis regulatory loci on mRNA expression… CONTINUE READING

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