@article{d7703b2b1b124df897acf01801b027c2,
title = "A survey of genetic human cortical gene expression",
abstract = "It is widely assumed that genetic differences in gene expression underpin much of the difference among individuals and many of the quantitative traits of interest to geneticists. Despite this, there has been little work on genetic variability in human gene expression and almost none in the human brain, because tools for assessing this genetic variability have not been available. Now, with whole-genome SNP genotyping arrays and whole-transcriptome expression arrays, such experiments have become feasible. We have carried out whole-genome genotyping and expression analysis on a series of 193 neuropathologically normal human brain samples using the Affymetrix GeneChip Human Mapping 500K Array Set and Illumina HumanRefseq-8 Expression BeadChip platforms. Here we present data showing that 58% of the transcriptome is cortically expressed in at least 5% of our samples and that of these cortically expressed transcripts, 21% have expression profiles that correlate with their genotype. These genetic-expression effects should be useful in determining the underlying biology of associations with common diseases of the human brain and in guiding the analysis of the genomic regions involved in the control of normal gene expression.",
author = "Myers, {Amanda J.} and Gibbs, {J. Raphael} and Webster, {Jennifer A.} and Kristen Rohrer and Alice Zhao and Lauren Marlowe and Mona Kaleem and Doris Leung and Leslie Bryden and Priti Nath and Zismann, {Victoria L.} and Keta Joshipura and Huentelman, {Matthew J.} and Diane Hu-Lince and Coon, {Keith D.} and Craig, {David W.} and Pearson, {John V.} and Peter Holmans and Heward, {Christopher B.} and Reiman, {Eric M.} and Dietrich Stephan and John Hardy",
note = "Funding Information: C. Hulette and J.F. Ervin (The Kathleen Price Bryan Brain Bank, Duke University Medical Center, NIA grant AG05128, National Institute of Neurological Disorders and Stroke grant NS39764, National Institute of Mental Health MH60451, also funded by Glaxo Smith Kline); D. Horoupian and A. Salehi (Stanford University); J.P. Vonsattel and K. Mancevska (New York Brain Bank, Taub Institute, Columbia University); E.T. Hedley-Whyte and K. Fitch (Massachusetts General Hospital); R. Albin, L. Bain and E. Gombosi (University of Michigan, National Institutes of Health (NIH) grant P50-AG08671); W. Markesbery and S. Anderson (University of Kentucky, NIH grant AG05144); D.W. Dickson and N. Thomas (Mayo Clinic, Jacksonville); C.A. Miller, J. Tang and D. Diaz (University of Southern California); D. McKeel, J.C. Morris, E. Johnson Jr., V. Buckles and D. Carter (Washington University, St. Louis, Alzheimer{\textquoteright}s Disease Research Center (NIH grant P50AG05681); T. Montine and A. Schantz (University of Washington, Seattle, NIH grant P50 AG05136); J.Q. Trojanowski, V.M. Lee, V. Van Deerlin and T. Schuck (University of Pennsylvania School of Medicine, Alzheimer{\textquoteright}s Disease Research Center); A.C. McKee and C. Kubilus (Boston University Alzheimer{\textquoteright}s Disease Research Center, NIH grant P30-AG13846); J. Rogers, T.G. Beach and L.I. Sue (Sun Health Research Institute, Arizona, NIA grant P30 AG19610); B.H. Wainer and M. Gearing (Emory University); C.L. White III, R. Rosenberg, M. Howell and J. Reisch (University of Texas Southwestern Medical School); W. Ellis and M.A. Jarvis (University of California, Davis); D.A. Bennett, J.A. Schneider, K. Skish and W.T. Longman (Rush University Medical Center, Rush Alzheimer{\textquoteright}s Disease Center, NIH grant AG10161); and D.C. Mash, M.J. Basile and M. Tanaka (University of Miami/NPF Brain Endowment Bank). These studies were supported by Kronos Sciences Laboratory, the Verum Foundation, the Bisgrove charitable donation, the NIH Neuroscience Blueprint (U24NS051872), the ENDGAME Consortium (UO1HL084744) and the state of Arizona. We also thank E.B. Suh and J. Lowey at TGen for the use of the ASU-TGen cluster-based supercomputer. A.J.M. would like to thank the Johnnie B. Byrd Institute for support. None of the sponsors were involved in the design or conduct of the study, in the collection, analysis, and interpretation of the data, or in the preparation, review, or approval of the manuscript. Funding Information: We thank the individuals involved in this study and their families. Many data and biomaterials were collected from several sites funded by the National Institute on Aging (NIA) and National Alzheimer{\textquoteright}s Coordinating Center (NACC, grant #U01 AG016976). A.J. Myers (University of Miami, Department of Psychiatry) and J.A. Hardy (Reta Lila Weston Institute, University College London) collected and prepared the series. We thank M. Morrison-Bogorad, T. Phelps and W. Kukull for helping to coordinate this collection. The directors, pathologists and technicians involved include: R. Seemann (NIA); J.C. Troncoso and O. Pletnikova (Johns Hopkins Alzheimer{\textquoteright}s Disease Research Center, NIA grant AG05146); H. Vinters and J. Pomakian (University of California Los Angeles, NIA grant P50 AG16570);",
year = "2007",
month = dec,
doi = "10.1038/ng.2007.16",
language = "English (US)",
volume = "39",
pages = "1494--1499",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "12",
}