ArticlemedRxiv : the preprint server for health sciences2025
Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participants.
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39 authors.
Lincoln Mp ShadeDepartment of Biostatistics, University of Kentucky, Lexington, KY.ORCID 0000-0001-6093-4823
Mohsen SharifitabarGlenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, The University of Texas Health Science Center at San Antonio, San Antonio, TX.ORCID 0009-0001-2119-0769
Alexa BeiserDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA.ORCID 0000-0001-8551-7778
Claudia L SatizabalGlenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, The University of Texas Health Science Center at San Antonio, San Antonio, TX.ORCID 0000-0002-1115-4430
Thomas H MosleyDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS.ORCID 0000-0003-3343-1352
Joanne E CurranDivision of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX.ORCID 0000-0002-6898-155X
Jan BresslerHuman Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX.ORCID 0000-0001-6578-4772
Susan R HeckbertCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA.ORCID 0000-0002-7100-512X
Timothy M HughesDepartments of Internal Medicine and Epidemiology and Prevention, Wake Forest School of Medicine, Winston-Salem, NC.ORCID 0000-0002-2919-7199
Thomas R AustinCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA.
Ilya M NasrallahCenter for Biomedical Image Computing and Analytics, Department of Radiology, University of Pennsylvania, Philadelphia.ORCID 0000-0003-2346-7562
Lenore J LaunerLaboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD.ORCID 0000-0002-3238-7612
Lisa R YanekGeneSTAR Research Program, Johns Hopkins University School of Medicine, Baltimore, MD.ORCID 0000-0001-7117-1075
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA.ORCID 0000-0002-3409-1110
Harsha DoddapaneniHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Stacey GabrielGenomics Platform, Broad Institute, Cambridge, MA.
Namrata GuptaGenomics Platform, Broad Institute, Cambridge, MA.
Karine A Viaud-MartinezIllumina Laboratory Services, Illumina.Inc, 5200 Illumina Way, San Diego, CA.
Albert V SmithDepartment of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, MI.
Lauren A OpsasnickDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI.ORCID 0000-0001-6345-7276
Farrah AmmousSurvey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, MI.
Jennifer A SmithDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI.ORCID 0000-0002-3575-5468
Donna K ArnettOffice of the Provost, University of South Carolina, Columbia, SC.ORCID 0000-0003-2219-657X
Sharon L R KardiaDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI.ORCID 0000-0002-9853-3379
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA.ORCID 0000-0002-7278-2190
W T LongstrethDepartment of Epidemiology, University of Washington, Seattle, WA.
Rasika A MathiasGeneSTAR Research Program, Johns Hopkins University School of Medicine, Baltimore, MD.ORCID 0000-0002-2282-9042
Paul NyquistJohns Hopkins School of Medicine, Department of Neurology, Baltimore, MD.ORCID 0000-0001-6078-3543
Stephen S RichDepartment of Genome Sciences, University of Virginia School of Medicine, Charlottesville, VA.ORCID 0000-0003-3872-7793
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA.ORCID 0000-0001-7191-1723
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX.ORCID 0000-0001-8813-0544
Charles S DeCarliDepartment of Neurology, University of California, Davis, CA.ORCID 0000-0003-1914-2693
David C GlahnDepartment of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, MA.ORCID 0000-0002-4749-6977
John BlangeroDepartment of Neurology, Boston University Chobanian & Avedisian School of Medicine, Botson, MA.ORCID 0000-0001-6250-5723
Myriam FornageHuman Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX.ORCID 0000-0003-0677-8158
David W FardoDepartment of Biostatistics, University of Kentucky, Lexington, KY.ORCID 0000-0002-7207-4696
Sudha SeshadriGlenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, The University of Texas Health Science Center at San Antonio, San Antonio, TX.ORCID 0000-0001-6135-2622
Chloé SarnowskiHuman Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX.ORCID 0000-0002-6090-7099
Funding
ARIC Neurocognitive Study (ARIC-NCS) Renewal 2023-2028U01HL096812 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI JOSEF CORESH, THOMAS H MOSLEY · 2010 to 2026
$65.7MThe Clinical Significance of Incidental White Matter Lesions on MRI Amongst a Diverse Population with Cognitive Complaints (INDEED)U19NS120384 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Charles DeCarli · 2020 to 2026
$61.9MSubclinical Vascular Contributions to Alzheimer's Disease: The Multi-Ethnic Study of Atherosclerosis (MESA) Multisite Study of AD (Renewal)R01AG058969 · NIA · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI Timothy M. Hughes, YONGMEI LIU · 2018 to 2026
$33.4MSouth Texas Alzheimer's Disease Research CenterP30AG066546 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Meredith Nahm Zozus · 2021 to 2026
$24.0MStudy of Latinos-Investigation of Neurocognitive Aging-Alzheimer's diseaseR01AG075758 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Charles DeCarli, Hector M Gonzalez · 2022 to 2026
$21.7MUniversity of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4MMRI, Genetics &Cognitive Precursors of AD &DementiaR01AG016495 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI AU, RHODA · 1999 to 2016
$12.5MTemporal Trends, Novel Imaging and Molecular Characterization of Preclinical and Clinical Alzheimer's Disease in the Framingham CohortsR01AG054076 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI DECARLI, CHARLES, SESHADRI, SUDHA · 2016 to 2020
$12.3MTherapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approachesU01AG058589 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BOERWINKLE, ERIC A., DE JAGER, PHILIP L · 2018 to 2022
$11.1MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MGenetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4MNHGRI NIH HHS T32 HG000040NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL131136NHLBI NIH HHS U01 HL096812NHLBI NIH HHS U01 HL120393NIA NIH HHS P30 AG066546NIA NIH HHS R00 AG066849NIA NIH HHS R01 AG016495NIA NIH HHS R01 AG033193NIA NIH HHS R01 AG049607NIA NIH HHS R01 AG054069NIA NIH HHS R01 AG054076NIA NIH HHS R01 AG058969NIA NIH HHS R01 AG059727NIA NIH HHS R01 AG075758NIA NIH HHS R01 AG082360NIA NIH HHS R01 AG082730NIA NIH HHS R21 AG087907NIA NIH HHS RF1 AG059421NIA NIH HHS RF1 AG077639NIA NIH HHS RF1 AG082339NIA NIH HHS T32 AG057461NIA NIH HHS U01 AG058589NICHD NIH HHS P50 HD105351NINDS NIH HHS F30 NS124136NINDS NIH HHS RF1 NS130659NINDS NIH HHS U01 NS125513NINDS NIH HHS U19 NS120384
Abstract
Brain structural volumes are highly heritable and are linked to multiple neuropsychological outcomes, including Alzheimer's disease (AD). Genome-wide association studies have successfully identified genetic variants associated with intracranial volume (ICV), total brain volume (TBV), hippocampal volume (HV), and lateral ventricular volume (LVV). However, these studies mostly focused on common genetic variants with minor allele frequencies (MAF) > 1%, and individuals included in most of these studies were of predominantly European ancestry. Here, we performed whole-genome sequence (WGS) association studies of MRI brain volumes in 7,674 individuals of diverse race and ethnicity from the Trans-Omics for Precision Medicine (TOPMed) program. We identified novel genetic loci on chromosomes 13 and 16 near
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