Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies.

Mitchell SL, Hall JB, Goodloe RJ, Boston J, Farber-Eger E, Pendergrass SA, Bush WS, Crawford DC,. Mitochondria play a critical role in the cell and have DNA independent of the nuclear genome. There is much evidence that mitochondrial DNA (mtDNA) variation plays a role in human health and disease, however, this area of investigation has […]

Utilization of an EMR-biorepository to identify the genetic predictors of calcineurin-inhibitor toxicity in heart transplant recipients.

Oetjens M, Bush WS, Birdwell KA, Dilks HH, Bowton EA, Denny JC, Wilke RA, Roden DM, Crawford DC,. Calcineurin-inhibitors CI are immunosuppressive agents prescribed to patients after solid organ transplant to prevent rejection. Although these drugs have been transformative for allograft survival, long-term use is complicated by side effects including nephrotoxicity. Given the narrow therapeutic […]

Associations between KCNJ6 (GIRK2) gene polymorphisms and pain-related phenotypes.

Bruehl S, Denton JS, Lonergan D, Koran ME, Chont M, Sobey C, Fernando S, Bush WS, Mishra P, Thornton-Wells TA,. G-protein coupled inwardly rectifying potassium (GIRK) channels are effectors determining degree of analgesia experienced upon opioid receptor activation by endogenous and exogenous opioids. The impact of GIRK-related genetic variation on human pain responses has received […]

The somatic genomic landscape of glioblastoma.

Brennan CW, Verhaak RG, McKenna A, Campos B, Noushmehr H, Salama SR, Zheng S, Chakravarty D, Sanborn JZ, Berman SH, Beroukhim R, Bernard B, Wu CJ, Genovese G, Shmulevich I, Barnholtz-Sloan J, Zou L, Vegesna R, Shukla SA, Ciriello G, Yung WK, Zhang W, Sougnez C, Mikkelsen T, Aldape K, Bigner DD, Van Meir EG, […]

ICD-9 tobacco use codes are effective identifiers of smoking status.

Wiley LK, Shah A, Xu H, Bush WS,. To evaluate the validity of, characterize the usage of, and propose potential research applications for International Classification of Diseases, Ninth Revision (ICD-9) tobacco codes in clinical populations.Using data on cancer cases and cancer-free controls from Vanderbilt’s biorepository, BioVU, we evaluated the utility of ICD-9 tobacco use codes […]

Characterization of the Metabochip in diverse populations from the International HapMap Project in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project.

Crawford DC, Goodloe R, Brown-Gentry K, Wilson S, Roberson J, Gillani NB, Ritchie MD, Dilks HH, Bush WS,. Genome-wide association studies (GWAS) have identified hundreds of genomic regions associated with common human disease and quantitative traits. A major research avenue for mature genotype-phenotype associations is the identification of the true risk or functional variant for […]

Enabling high-throughput genotype-phenotype associations in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project as part of the Population Architecture using Genomics and Epidemiology (PAGE) study.

Bush WS, Boston J, Pendergrass SA, Dumitrescu L, Goodloe R, Brown-Gentry K, Wilson S, McClellan B, Torstenson E, Basford MA, Spencer KL, Ritchie MD, Crawford DC,. Genetic association studies have rapidly become a major tool for identifying the genetic basis of common human diseases. The advent of cost-effective genotyping coupled with large collections of samples […]