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01.06.2014 | Original Paper

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

verfasst von: Peter T. Nelson, Steven Estus, Erin L. Abner, Ishita Parikh, Manasi Malik, Janna H. Neltner, Eseosa Ighodaro, Wang-Xia Wang, Bernard R. Wilfred, Li-San Wang, Walter A. Kukull, Kannabiran Nandakumar, Mark L. Farman, Wayne W. Poon, Maria M. Corrada, Claudia H. Kawas, David H. Cribbs, David A. Bennett, Julie A. Schneider, Eric B. Larson, Paul K. Crane, Otto Valladares, Frederick A. Schmitt, Richard J. Kryscio, Gregory A. Jicha, Charles D. Smith, Stephen W. Scheff, Joshua A. Sonnen, Jonathan L. Haines, Margaret A. Pericak-Vance, Richard Mayeux, Lindsay A. Farrer, Linda J. Van Eldik, Craig Horbinski, Robert C. Green, Marla Gearing, Leonard W. Poon, Patricia L. Kramer, Randall L. Woltjer, Thomas J. Montine, Amanda B. Partch, Alexander J. Rajic, KatieRose Richmire, Sarah E. Monsell, Gerard D. Schellenberg, David W. Fardo, Alzheimer’ Disease Genetic Consortium

Erschienen in: Acta Neuropathologica | Ausgabe 6/2014

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Abstract

Hippocampal sclerosis of aging (HS-Aging) is a high-morbidity brain disease in the elderly but risk factors are largely unknown. We report the first genome-wide association study (GWAS) with HS-Aging pathology as an endophenotype. In collaboration with the Alzheimer’s Disease Genetics Consortium, data were analyzed from large autopsy cohorts: (#1) National Alzheimer’s Coordinating Center (NACC); (#2) Rush University Religious Orders Study and Memory and Aging Project; (#3) Group Health Research Institute Adult Changes in Thought study; (#4) University of California at Irvine 90+ Study; and (#5) University of Kentucky Alzheimer’s Disease Center. Altogether, 363 HS-Aging cases and 2,303 controls, all pathologically confirmed, provided statistical power to test for risk alleles with large effect size. A two-tier study design included GWAS from cohorts #1–3 (Stage I) to identify promising SNP candidates, followed by focused evaluation of particular SNPs in cohorts #4–5 (Stage II). Polymorphism in the ATP-binding cassette, sub-family C member 9 (ABCC9) gene, also known as sulfonylurea receptor 2, was associated with HS-Aging pathology. In the meta-analyzed Stage I GWAS, ABCC9 polymorphisms yielded the lowest p values, and factoring in the Stage II results, the meta-analyzed risk SNP (rs704178:G) attained genome-wide statistical significance (p = 1.4 × 10⁻⁹), with odds ratio (OR) of 2.13 (recessive mode of inheritance). For SNPs previously linked to hippocampal sclerosis, meta-analyses of Stage I results show OR = 1.16 for rs5848 (GRN) and OR = 1.22 rs1990622 (TMEM106B), with the risk alleles as previously described. Sulfonylureas, a widely prescribed drug class used to treat diabetes, also modify human ABCC9 protein function. A subsample of patients from the NACC database (n = 624) were identified who were older than age 85 at death with known drug history. Controlling for important confounders such as diabetes itself, exposure to a sulfonylurea drug was associated with risk for HS-Aging pathology (p = 0.03). Thus, we describe a novel and targetable dementia risk factor.

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Titel: ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology
verfasst von: Peter T. Nelson
Steven Estus
Erin L. Abner
Ishita Parikh
Manasi Malik
Janna H. Neltner
Eseosa Ighodaro
Wang-Xia Wang
Bernard R. Wilfred
Li-San Wang
Walter A. Kukull
Kannabiran Nandakumar
Mark L. Farman
Wayne W. Poon
Maria M. Corrada
Claudia H. Kawas
David H. Cribbs
David A. Bennett
Julie A. Schneider
Eric B. Larson
Paul K. Crane
Otto Valladares
Frederick A. Schmitt
Richard J. Kryscio
Gregory A. Jicha
Charles D. Smith
Stephen W. Scheff
Joshua A. Sonnen
Jonathan L. Haines
Margaret A. Pericak-Vance
Richard Mayeux
Lindsay A. Farrer
Linda J. Van Eldik
Craig Horbinski
Robert C. Green
Marla Gearing
Leonard W. Poon
Patricia L. Kramer
Randall L. Woltjer
Thomas J. Montine
Amanda B. Partch
Alexander J. Rajic
KatieRose Richmire
Sarah E. Monsell
Gerard D. Schellenberg
David W. Fardo
Alzheimer’ Disease Genetic Consortium
Publikationsdatum: 01.06.2014
Verlag: Springer Berlin Heidelberg
Erschienen in: Acta Neuropathologica / Ausgabe 6/2014
Print ISSN: 0001-6322
Elektronische ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-014-1282-2

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ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

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