@article{95b50aaf6db5407ebfdbfe58495f581c,
title = "The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts",
abstract = "Previously we have shown that the H1c haplotype on the background of the H1 clade of haplotypes at the MAPT locus is associated with increased risk for progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and Alzheimer's disease (AD). Here we replicated the association with AD in an additional autopsy confirmed series. We show that this haplotype increases both the expression of total MAPT transcript as well as specifically increasing the proportion of 4 microtubule binding repeat containing transcripts. We discuss these findings both in terms of the problems facing the dissection of the etiologies of complex traits and the pathogenesis of the tauopathies.",
author = "Myers, {Amanda J.} and Pittman, {Alan M.} and Zhao, {Alice S.} and Kristen Rohrer and Mona Kaleem and Lauren Marlowe and Andrew Lees and Doris Leung and McKeith, {Ian G.} and Perry, {Robert H.} and Morris, {Chris M.} and Trojanowski, {John Q.} and Christopher Clark and Jason Karlawish and Steve Arnold and Forman, {Mark S.} and {Van Deerlin}, Vivianna and {de Silva}, Rohan and John Hardy",
note = "Funding Information: Many data and biomaterials were collected from several NIA-NACC funded sites. Marcelle Morrison-Bogorad, PhD, Tony Phelps, PhD, and Walter Kukull, PhD, are thanked for helping to co-ordinate this collection. The directors, pathologist and technicians involved include the following: National Institute on Aging: Ruth Seemann, Dan Brady, MD; John Hopkins Alzheimer{\textquoteright}s Disease Research Center (NIA grant # AG 05146): Juan C. Troncoso, MD, Dr. Olga Pletnikova; University of California, Los Angeles (NIA grant # P50 AG16570): Harry Vinters, MD, Justine Pomakian; The Kathleen Price Bryan Brain Bank, Duke University Medical Center (NIA grant #AG05128, NINDS grant # NS39764, NIMH MH60451 also funded by Glaxo Smith Kline): Christine Hulette, MD, Director; Stanford University: Dikran Horoupian, MD, Ahmad Salehi, MD, PhD; New York Brain Bank, Taub Institute, Columbia University (NYBB): Jean Paul Vonsattel, MD; Massachusetts General Hospital: E. Tessa Hedley-Whyte, MD, Karlotta Fitch; University of Michigan (NIH grant P50-AG08671): Dr. Roger Albin, Lisa Bain, Eszter Gombosi; University of Kentucky: William Markesbery, MD, Sonya Anderson; Mayo Clinic, Jacksonville: Dennis W. Dickson, MD, Natalie Thomas; University Southern California: Caroll A. Miller, MD, Jenny Tang, MS, Dimitri Diaz; Washington University, St. Louis Alzheimer{\textquoteright}s Disease Research Center: Dan McKeel, MD, John C. Morris, MD, Eugene Johnson, Jr., PhD, Virginia Buckles, PhD, Deborah Carter; University of Washington, Seattle: Thomas Montine, MD, PhD, Aimee Schantz, MEd; Boston University Alzheimer{\textquoteright}s Disease Research Center (NIH grant P30-AG13846): Ann C. McKee, Carol Kubilus; Sun Health Research Institute, Arizona: Joseph Rogers, PhD, Thomas G. Beach, MD, PhD; Lucia I. Sue Emory University: Bruce H. Wainer, MD, PhD, Marla Gearing, PhD; University of Texas, Southwestern Medical School: Charles L. White, III, MD, Roger Rosenberg, Marilyn Howell, Joan Reisch; University of California, Davis: William Ellis, MD, Mary Ann Jarvis; Rush University Medical Center, Rush Alzheimer{\textquoteright}s Disease Center: David A. Bennett, MD, Julie A. Schneider, MD, MS, Karen Skish, MS, PA (ASCP) MT, Wayne T Longman; University of Miami/NPF Brain Endowment Bank: Deborah C. Mash, MD, Margaret J Basile, Mitsuko Tanaka. Funding Information: AJM is a resident research associate of the National Academy of Sciences (USA). AJM and JH would like to thank the Verum Foundation and the EU DIADEM project for grant support. This work was supported by the Reta Lila Weston Trust for Medical Research (AMP, AJL, RdS). RdS is supported by a grant from the Medical Research Council, UK. JQT, CC, JK, SA, MSF and VVD by NIH grants AG-10124 and AG-17586. CMM, IGMcK and RHP acknowledge funding from the Medical Research Council, UK, and The Alzheimer{\textquoteright}s Research Trust, UK. JH was supported by the NIA/NIH intramural program.",
year = "2007",
month = mar,
doi = "10.1016/j.nbd.2006.10.018",
language = "English (US)",
volume = "25",
pages = "561--570",
journal = "Neurobiology of Disease",
issn = "0969-9961",
publisher = "Academic Press Inc.",
number = "3",
}